BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group ...BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.展开更多
Sickle cell anemia (SCA) is a prevalent genetic disorder primarily affecting individuals of African descent and populations in malaria-endemic regions, with significant global public health implications. Sickle cell c...Sickle cell anemia (SCA) is a prevalent genetic disorder primarily affecting individuals of African descent and populations in malaria-endemic regions, with significant global public health implications. Sickle cell crises are their most common acute complication, characterized by episodes of intense pain and systemic manifestations that impair quality of life and impose a high healthcare burden. We present the case of a 19-year-old male diagnosed with SCA since the age of two, who developed a sickle cell crisis precipitated by right basal pneumonia. The patient exhibited sudden-onset, cyclic lumbar pain with progressive dyspnea. Initial management included multimodal pain control, volume optimization, and targeted antimicrobial therapy to achieve clinical stabilization. This case underscores the importance of a comprehensive approach to managing sickle cell crises, addressing both symptomatic relief and the prevention and treatment of complications. It also highlights the need for public health strategies promoting early diagnosis, access to disease-modifying therapies such as hydroxyurea, and interdisciplinary follow-up to mitigate the socioeconomic and clinical impact of SCA.展开更多
Sickle cell disease(SCD)is a genetic disorder that predisposes affected individuals to a range of complications,including an increased susceptibility to viral infections.These infections present significant clinical c...Sickle cell disease(SCD)is a genetic disorder that predisposes affected individuals to a range of complications,including an increased susceptibility to viral infections.These infections present significant clinical challenges due to the underlying immunocompromised state in SCD patients.This review examines the interaction between viral infections and SCD,highlighting the vulnerabilities and the impact of these infections on morbidity and mortality in this population.Advances in antiviral therapies have significantly improved outcomes,yet managing viral infections in SCD patients requires special consideration due to drug-to-drug interactions,altered pharmacokinetics,and the potential exacerbation of SCDrelated complications.Additionally,vaccination strategies against viral infections and the emerging role of prophylactic antiviral treatments are discussed as critical components of infection prevention.By focusing on both established and novel antiviral treatments,this article aims to provide a comprehensive overview of the challenges and opportunities in managing viral infections in patients with SCD.展开更多
Sickle cell disease(SCD)is a genetic disorder characterized by chronic hemolysis and vaso-occlusive crises(VOCs),leading to musculoskeletal complications that significantly affect quality of life.Among these,shoulder ...Sickle cell disease(SCD)is a genetic disorder characterized by chronic hemolysis and vaso-occlusive crises(VOCs),leading to musculoskeletal complications that significantly affect quality of life.Among these,shoulder complications are a concern,with humeral head avascular necrosis(AVN)being the second most common site of involvement after the femoral head.Other shoulder pathologies,including osteomyelitis and septic arthritis,further contribute to morbidity.However,these conditions remain underdiagnosed and understudied,often due to overlapping symptoms with VOC-related bone infarctions.Imaging,particularly magnetic resonance imaging,is crucial for early diagnosis and accurate differentiation.Management strategies range from conservative pain control to surgical interventions,including core decompression for early-stage AVN and arthroplasty for advanced joint destruction.Surgical outcomes in SCD,however,remain inconsistent due to higher complication rates and a lack of standardized guidelines.Despite advancements in diagnosis and treatment,shoulder pathology in SCD remains an area of limited research.This review highlights the need for larger,long-term studies with a homogeneous etiology to support and refine current treatment strategies and improve patient outcomes.展开更多
Background: Sickle cell anemia(SCA), a genetic hemoglobin disorder, suggests essential inner ear compromise and poor auditory processing. In humans, auditory processing differs physiologically between males and female...Background: Sickle cell anemia(SCA), a genetic hemoglobin disorder, suggests essential inner ear compromise and poor auditory processing. In humans, auditory processing differs physiologically between males and females, possibly true for SCA due to gender-specific disease pathophysiological changes. Objective: To investigate gender differences in psychoacoustical abilities, and speech perception in noise in SCA individuals and further compare with normal healthy(NH) population. Methods: 80 SCA and 80 NH normal-hearing participants aged 15-40 years were included and further grouped based on gender. Auditory discrimination for frequency, intensity, and duration at 500Hz and 4000Hz;temporal processing(Gap detection threshold & Modulation Detection Threshold) and Speech Perception In Noise(SPIN) at 0d BSNR tests were evaluated and compared between males and females of SCA and NH population. Results: SCA performed poorer compared to NH for all experimental measures. In the NH population, males performed poorer than females in psychoacoustical measures whereas within the SCA population, the reverse was true. Female participants performed better in the SPIN test in both populations. Conclusions: The adverse impact of SCA on the auditory system due to circulatory changes might cause poorer performance in SCA. Poorer performance by Female SCA is possibly due to the contrary impact of lower Hb level overlying Sickle disease.Estrogen levels and gender preference in auditory processing might lead to better performance by females within the NH population. SPIN performance depends on different attentional demands and sensorimotor processing strategies in noise beyond psychoacoustical processing may lead to better female performance in both populations.展开更多
Introduction: The association of sickle cell disease and pregnancy is a risky situation for the mother as well as the fetus and even the neonate. The objective of this work was to study the maternal and perinatal prog...Introduction: The association of sickle cell disease and pregnancy is a risky situation for the mother as well as the fetus and even the neonate. The objective of this work was to study the maternal and perinatal prognosis of pregnancies in women with sickle cell disease at CHUD-Borgou/Alibori from 2019 to 2023. Patients and Methods: This was a case-control study with a retrospective collection of data from January 1, 2019 to June 30, 2023. It covered sickle cell and non-sickle cell women and their neonates who having given birth at the maternity ward of CHUD-Borgou/Alibori. Results: The frequency of pregnant women with sickle cell disease was 1.36% (153/11212). The average age of the pregnant women with sickle cell disease was 26.77 years ± 5.03. Vaso-occlusive crisis (VOC) was the main complication observed in pregnant women with sickle cell disease during pregnancy (26%). Regarding the complications common to the 2 groups of pregnant women, urinary tract infections (18.1%), severe anemia (22.8%), and severe malaria (26.8%) were more reported in sickle cell patients with a statistically significant difference (p-value = 0.000). Delivery was premature in 61.9% of pregnant women with sickle cell disease compared to 18.5% in pregnant women without sickle cell disease, with a significant difference (p-value = 0.000). The main route of delivery among patients with sickle cell disease was cesarean section (94.4%), while it was vaginal delivery (50.4%) among non-sickle cell pregnant women. VOC (4.8%), severe anemia (39.7%), and acute pulmonary edema (2.4%) were the main complications reported among sickle cell pregnant women in the immediate postpartum period with a significant difference (p-value = 0.000). Three cases of maternal death (2.4%) were recorded in pregnant women with sickle cell disease. The neonatal pathologies identified in the neonates of pregnant women with and without sickle cell disease were mainly neonatal bacterial infection (20.0% vs. 17.2%), hypotrophy (17.0% vs. 5.7%), prematurity (14.8% vs. 7.3%) with a significant difference (p-value = 0.000). The perinatal mortality rate was 57.14‰ in sickle cell women compared to 30‰ with a significant difference (p-value = 0.000). Conclusion: Pregnancy in women with sickle cell disease carries a high risk of maternal and perinatal morbidity and mortality. Information, awareness raising among populations and the adaptation of prenatal care are essential.展开更多
Objective:This study aimed to investigate the effect of empowerment-based interventions on selfefficacy and self-care capacity among adults with sickle cell disease(SCD).Methods:A randomized control trial was conducte...Objective:This study aimed to investigate the effect of empowerment-based interventions on selfefficacy and self-care capacity among adults with sickle cell disease(SCD).Methods:A randomized control trial was conducted[NCT06296654].A total of 76 patients were recruited by using a cluster sampling technique in the two health centers in Bahrain from February to May 2022 and randomly allocated to the intervention group(n=38)or control group(n=38).The intervention group received the empowerment-based intervention implemented through structured small-group discussion sessions,individualized consultations(5A model:assess,advise,agree,assist,and arrange),and follow-up sessions,while the control group received routine health education.The Sickle Cell Self-Efficacy Scale(SCSES)and the Appraisal of the Self-Care Agency Scale-Revised(ASA-R)were measured at baseline and one month after the intervention among two groups of patients.Results:A total of 68 patients completed the study(36 patients in the intervention group and 32 patients in the control group).After the intervention,the score of SCSES in the intervention group was 37.0(35.0,39.8)higher than the control group 28.0(25.2,32.0)(U=-6.121,P<0.001);the score of ASA-R in the intervention group was 61.0(58.3,65.0)higher than the control group 49.0(43.3,53.0)(U=-0.653,P<0.001).Conclusion:Adopting the empowerment-based intervention using the 5As model effectively improves self-efficacy and self-care capacity among patients with SCD.展开更多
Introduction: Sickle cell disease is one of the most common autosomal recessive inherited diseases. Its prevalence is increasing due to the perpetuity of carriers of the trait who are able to marry. Women aged 18 to 3...Introduction: Sickle cell disease is one of the most common autosomal recessive inherited diseases. Its prevalence is increasing due to the perpetuity of carriers of the trait who are able to marry. Women aged 18 to 35 years constitute the most reproductive age group. This study was conducted with the aim of determining the prevalence of sickle cell trait among women aged 18 to 35 years and the attitude of women carriers towards the choice of a carrier spouse. Materials and methods: This was a cross-sectional descriptive study with analytical aims conducted from March to September 2024 in Kisangani. A total of 215 women aged 18 to 35 years presented for screening for sickle cell trait. This study described the following parameters: Sociodemographic data (age, level of education, socioeconomic level, marital status), obstetric and medical history (obstetric formula, sickle cell disease, high blood pressure, diabetes mellitus, asthma), knowledge of sickle cell disease (etiological classification, transmission, prevention, high-risk marriages, clinical manifestations, progression of the disease), attitude of the woman in relation to the choice of an AS spouse, as well as the reasons justifying each attitude. Results: The prevalence of sickle cell trait was 23.7% (51/215). A total of 64.3% of respondents had accepted the choice of spouse before confirmation of carrier status and 73.8% had refused after confirmation of carrier status. Choice was significantly related to age (p-value = 0.027), occupation (p-value = 0.015), parity (p-value = 0.039) and gesture (p-value = 0.034) before test. The ignorance of the union at risk was associated with the risk (p = 0.005;OR: 9.10;CI 95%: 2.03 - 4.81) of accepting the choice of a spouse carrying the trait. Conclusion: The prevalence of sickle cell trait among women aged 18 to 35 years in Kisangani remains within the limits of that of the general population. The choice of a spouse carrying sickle cell trait is associated with the woman’s age, her profession, parity, gestation and her knowledge about high-risk unions. Screening campaigns and health education sessions enable women carrying sickle cell trait to make a wise choice.展开更多
Research Background: Sickle cell trait has no treatment or cure and predominantly affects people who are Black, but can affect anyone of any race or ethnicity. While commonly incorrectly considered benign by providers...Research Background: Sickle cell trait has no treatment or cure and predominantly affects people who are Black, but can affect anyone of any race or ethnicity. While commonly incorrectly considered benign by providers and the public, people with a sickle cell trait experience life-threatening outcomes that are exacerbated by extreme conditions. There is a severe lack of awareness and understanding of sickle cell trait and the associated health complications among sickle cell trait carriers and healthcare providers. Purpose/Aim: Interventions that aim to improve awareness of sickle cell trait differ in approaches and are not well documented in the literature. This typology aims to highlight current efforts to inform targeted interventions that raise awareness through consistent messaging, educate people and providers on sickle cell trait and the related health complications, and support the design and implementation of comprehensive sickle cell trait awareness initiatives. Methods: We conducted a scoping review of United States-based sickle cell trait interventions and performed a content analysis to identify the categories and characteristics of these efforts. We then organized the results into a typology according to established protocols. Results: Among 164 interventions, twenty-five (15%) met the typology inclusion criteria described above and were grouped into categories: Seven of twenty-five interventions were Educational Interventions (28%), three of twenty-five interventions (12%) were Combined Screening and Educational-Based Interventions, eight of twenty-five interventions (32%) were Policy and Guideline-Based Intervention, and six of twenty-five interventions (24%) were Sickle Cell Trait Organization-Led Interventions. Conclusions: There is a lack of consistency in messaging across interventions whether delivered by credible healthcare institutions or national organizations, which can result in lack of education and awareness and confusion around sickle cell trait. Categorizing interventions through a typology allows clarity and informs consistency in messaging, which should be at the forefront of future sickle cell trait efforts.展开更多
Sickle cell disease(SCD)is a widespread hemoglobinopathy that results in significant patient morbidity and mortality.Vascular occlusion can cause acute pain,acute chest syndrome,and avascular necrosis,while hemolysis ...Sickle cell disease(SCD)is a widespread hemoglobinopathy that results in significant patient morbidity and mortality.Vascular occlusion can cause acute pain,acute chest syndrome,and avascular necrosis,while hemolysis and endothelial disruption can cause ischemic stroke,leg ulcers,pulmonary hypertension,and priapism.All ocular and orbital structures can be affected by SCD ischemic events,including orbital bone infarction,ischemic optic neuropathy,retinal artery occlusion,hyphema,secondary glaucoma,sickle cell maculopathy,and sickle cell retinopathy.Proliferative sickle cell retinopathy(PSR)is the most common cause of vision loss.Untreated PSR can lead to macular ischemia,vitreous hemorrhage,and tractional retinal detachment.Ophthalmic screening exams and multimodal imaging can lead to earlier detection of sickle cell retinopathy and improved patient outcomes.SCD patients undergoing vitreoretinal surgery may require coordination of care with hematologists to avoid ischemic complications.While hydroxyurea was the only United States Food and Drug Administration approved treatment for several decades,patients with SCD now have several more treatment options.Despite the United States screening all infants for SCD,there can be delays in diagnosis and treatment.This review article aims to provide an overview of sickle disease for the ophthalmologist,and to discuss emerging treatment options and current management of SCD ocular complications.展开更多
Sickle cell disease (SCD) is a prevalent condition, particularly in the countries of sub-Saharan Africa, where the presence of specific genes associated with Malaria contributes to its high prevalence. Patients with s...Sickle cell disease (SCD) is a prevalent condition, particularly in the countries of sub-Saharan Africa, where the presence of specific genes associated with Malaria contributes to its high prevalence. Patients with sickle cell disease frequently experience painful episodes necessitating hospitalization, and their hemoglobin levels are typically lower than those of the general population. There are different treatment options available to manage complications, such as transfusing blood, hydroxyurea, and strong anti-pains. However, with all these treatments, patients still commonly experience pain crises and suffer from organ damage. Hydroxyurea, the sole approved medication for sickle cell anemia in developed and developing countries, is widely used in children despite being primarily indicated for adults. Multiple studies have demonstrated the efficacy of hydroxyurea in inducing HbF production in young children with SCD. Elevated HbF levels have been associated with improved clinical outcomes, including a reduction in vaso-occlusive crises, acute chest syndrome, and the need for blood transfusions. Furthermore, increased HbF levels have been shown to ameliorate disease-related organ damage, such as pulmonary hypertension and sickle cell retinopathy. The response to hydroxyurea treatment in young children with SCD is variable. Some patients achieve substantial increases in HbF levels and experience significant clinical benefits, while others may have a more modest response. Factors influencing the response include baseline HbF levels, genetic modifiers, treatment adherence, and dose optimization. Safety is a crucial consideration when using hydroxyurea in young children. Studies have shown that hydroxyurea is generally well-tolerated, with the most common adverse effects being myelosuppression, gastrointestinal symptoms, and dermatological manifestations. However,long-term effects and potential risks, such as renal dysfunction and reproductive impacts, require further investigation. The effectiveness of hydroxyurea in young children with SCD has been demonstrated in various clinical trials and observational studies. These studies have shown a significant reduction in disease-related complications and improved quality of life. However, optimal dosing, treatment duration, and long-term outcomes are still areas of ongoing research. This review focuses on recent studies investigating the benefits, effectiveness, responses, and safety of hydroxyurea in pediatric individuals diagnosed with sickle cell disease.展开更多
Introduction: In view of the number of sickle cell patients and due to a low production of descriptive studies, we decided to determine the prevalence of genes S and C of the disease in the Zinder region. The objectiv...Introduction: In view of the number of sickle cell patients and due to a low production of descriptive studies, we decided to determine the prevalence of genes S and C of the disease in the Zinder region. The objective was to contribute to improving the management of sickle cell disease in Zinder. Methodology: This was a systematic screening by the “Sickle Scan” test of any blood donor admitted to the Zinder Regional Blood Transfusion Center during the 6-month study period, from January to June 2023. The Sickle Scan is a qualitative lateral flow chromatography immunoassay using whole blood samples that aid in the rapid diagnosis of sickle cell disease. Results: The study was carried out on 613 samples during the period concerned. The frequency of sickle cell genes was 26.9% (n = 165) in all samples collected, with 23.1% (n = 142) and 3.8% (n = 23) for the S gene and the C gene, respectively. The 18 - 30 age group was the most represented with 64.4% (n = 395) cases. The median age of blood donors was 26 years ± 10 years (min = 18 years/max = 60 years). The sex ratio was 2.5. Donors of Nigerien nationality accounted for 84.1% (n = 516). There is a predominance of blood donors with an average monthly income between 34,000 and 70,000 CFA francs in 44.3% (n = 272), lived in permanent housing with drinking water supply. Sickle cell trait (SMA) was found in 22.5% (n = 138). Conclusion: The analysis of these results highlights a high frequency of the S gene for sickle cell disease. The population with an average monthly income is the most affected, with a male predominance.展开更多
Introduction: Sickle cell anaemia is a hereditary disease that combines physical and psychological manifestations, including suicidal tendencies. So far, to our knowledge, no study has been conducted on suicidal behav...Introduction: Sickle cell anaemia is a hereditary disease that combines physical and psychological manifestations, including suicidal tendencies. So far, to our knowledge, no study has been conducted on suicidal behaviours among people with sickle cell disease in Cameroon. This is what justifies our study on the prevalence and factors related to suicidal behaviors in our study population. Methods: We conducted a cross-sectional, analytical study of 171 sickle cell patients aged from 12 years upwards who came to the sickle cell disease care service of the Laquintinie Hospital in Douala, over a period of 6 months, that is, from 1 January to 31 June 2022. Data were collected using a structured questionnaire with questions on suicidal behaviours based on the “MINI” (Mini International Neuropsychiatric Interview). The data were processed using the SPSS 26.0 software. The related factors were studied in both a bivariate and multivariate analysis. Results: Female sickle cell patients accounted for 60.2% of the sample. The mean age was 23.36 ± 8.42 years. Suicidal ideation was prevalent in 56% of cases and 13% attempted suicide. The factors most associated with suicidal ideation were: primary level of education (OR = 0.08 (0.09 - 0.79);p = 0.03), feeling unworthy of life (OR = 0.40 (0.08 - 1.96);p = 0.02), not often being considered by those around them (OR = 2.97 (1.26 - 6.99);p = 0.01), lack of family support (OR = 0.34 (0.15 - 0.77);p = 0.01). Meanwhile, the factors associated with suicide attempts were: the fact of being rarely exposed to suicide-related media (OR = 4.17 (1.40 - 71.80);p = 0.03), and a constant feeling of sadness when returning home (OR = 18.02 (1.59 - 20.55);p = 0.01). Conclusion: More than half of sickle cell patients had had suicidal thoughts and 1/6 had made at least one suicide attempt, women and young adults being the most concerned. It is therefore necessary to ensure optimum psychological care for patients with sickle cell disease.展开更多
Sickle Cell Anemia(SCA)is a prevalent genetic condition in Saudi Arabia,particularly in the Jazan region.The study’s purpose was to assess the prevalence of de-pression among individuals with SCA in this area and to ...Sickle Cell Anemia(SCA)is a prevalent genetic condition in Saudi Arabia,particularly in the Jazan region.The study’s purpose was to assess the prevalence of de-pression among individuals with SCA in this area and to identify the factors associated with this condition.The study involved 391 adult participants,all patients in the hematology center of Prince Mohammed bin Nasser Hospital(PMNH).Data was collected through an anonymous interview questionnaire–the Arabic version of the Patient Health Questionnaire-9(PHQ-9)–between March–May 2022.The questionnaire covered socio-demographic information and variables related to the participant’s SCA history,such as pain levels,frequency of pain,hospitalization duration,and frequency of blood transfusions.These variables underwent Chi-square and One-way ANOVA testing,followed by multivariate regression.The study found a 42%prevalence of depression among the SCA patients.Factors significantly linked with heightened depression levels included being widowed or divorced,experiencing frequent and severe pain,and longer duration of hospital stays.An educational level of at least a bachelor’s degree was also a significant factor.The study reveals a high prevalence of depression among SCA patients in the Jazan region.It underscores the need for policymakers to educate both physicians and patients about the importance of mental health in SCA management.The study also highlights the need for more research into the specific causes and effects of depressive symptoms in SCA patients to inform the creation of effective management plans.展开更多
Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been ass...Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been assessed yet. Therefore the objective of this study is to identify in Abidjan the HbS haplotypes that modulate HU treatment responses. Methods: In a cross-sectional descriptive and analytical study, children aged 5 to 15 years with SCD, and carrying the hemoglobin phenotypes SSFA2 and SFA2, were recruited into a HU treatment cohort. Various parameters on the haplotypes and the outcomes of the treatment were analyzed. Results: Thirty nine children with SCD were included. The phenotypic profile of the cohort was 86.6% of SSFA2 and 15.4% of SFA2. Three haplotypes were found, the Benin haplotype, the Senegal haplotype, and an atypical one. The participants belonged to three genotypes, Benin/atypical (64.1%), Benin/Senegal (33.3%) and Senegal/Senegal (2.6%). Overall, HU treatment was successful in all haplotypes with 12 out of 39 patients failing treatment after 12 months in the Benin haplotype group. The association between HU treatment success and the Benin haplotype was found in terms of the decrease in the number of white blood cells and the students missing class. Conclusion: The study revealed that inferring haplotype based on the phenotypic profile could be inaccurate. The proportion of atypical haplotype that were not previously described in Côte d’Ivoire was high. All the haplotypes seemed to be associated with HU treatment success but some patients with Benin haplotype did not respond well.展开更多
Introduction: Sickle cell disease is a public health problem in sub-Saharan Africa. A national referral center for the management of infants and pregnant women with sickle cell disease (CPMI-NFED) was created three de...Introduction: Sickle cell disease is a public health problem in sub-Saharan Africa. A national referral center for the management of infants and pregnant women with sickle cell disease (CPMI-NFED) was created three decades ago in Cotonou, in the south of Benin with two regional branches including that of Parakou in the North for better access of patients to specialized care. This work is a review of five years of activities in order to describe the epidemiological, clinical, hematological and evolutionary profiles of the children followed up in the said branch. Method: This was a descriptive and retrospective cross-sectional study on the medical records of children with sickle cell disease, followed up at the regional branch of CPMI-NFED in Borgou/Alibori from June 1, 2017 to May 31, 2022. The variables studied were epidemiological, clinical, biological and evolutionary. Results: A total of 101 children with sickle cell disease were included in the study, including 78 homozygous SS (77.2%) and 23 heterozygous SC (22.8%). Their mean age at inclusion was 51.2 ± 37.6 months [6 - 204]. The sex ratio was 1.4. Vaso-occlusive crises were the main diagnostic circumstances in 42.3% of homozygotes. More than half of the children (51.5%) had a regular follow-up. The average baseline level of hemoglobin (Hb) in homozygous children was 8.8 ± 1.4 g/dl [5.8 - 11.5];and the rate of Hb S varied between 61.9 and 94.7%. In heterozygous SC children, the mean baseline level of Hb was 10.7 ± 0.6 g/dl [9.7 - 11.5]. Acute complications observed during follow-up were dominated by pneumonia and vaso-occlusive crises in both phenotypes. The overall mortality was 3% and only affected homozygous patients. Conclusion: On average, three out of four children were homozygous in our cohort. The main acute complications were infectious and vaso-occlusive. The mortality only affected homozygous carriers. Specialized follow-up has contributed to improving the quality of life of children with sickle cell disease. This could be implemented on a large scale for better survival of children with sickle cell disease.展开更多
Femoral neck fracture is classically a traumatic pathology in the elderly but it can also occur in young people during a road traffic accident or occasionally when the femoral neck has been weakened by a pathological ...Femoral neck fracture is classically a traumatic pathology in the elderly but it can also occur in young people during a road traffic accident or occasionally when the femoral neck has been weakened by a pathological process. In sickle cell patients, the hip is often subjected to aseptic necrosis. The authors report the case of the child NL, aged 5 years and 4 months in whom a fracture of the femoral neck classified Delbet 3 was found as well as his sickle cell status discovered and in whom treatment by surgical abstention was carried out with a favorable evolution. This association of factors of the femoral head necrosis or nonunion is unusual and confirms the osteogenetic potential of a child. However, monitoring is necessary because other anomalies may reveal themselves.展开更多
Introduction: Infections are significant causes of mortality in sickle cell children in resource-limited countries. This study aimed to determine the clinical profile and bacterial ecology of infections in children wi...Introduction: Infections are significant causes of mortality in sickle cell children in resource-limited countries. This study aimed to determine the clinical profile and bacterial ecology of infections in children with sickle-cell disease in two referral hospitals in Niamey. Patients and methods: A retrospective descriptive study was conducted from January 2018 to July 2020 in two referral hospitals in Niamey. All children aged one (1) to 15 years with sickle cell disease admitted for suspected infection, including at least one bacterial culture, were studied. Bacteriological analysis was performed using the appropriate culture media, using BactAlert (Reference 4700003 BTA3D60 BioMérieux). Results: Over 36-months, 350 children with a mean age of 10.9 months were admitted. The sex ratio was 1.2. The SS electrophoretic profile was the most common (93.4%). Immunization status was up to date in 66% of patients. Fever was the common reason for consultation (55.1%). Infection was confirmed in 62 patients (17.7%). The primary diagnoses were bacterial gastroenteritis (24.2%) and urinary tract infection (19.4%). Blood cultures were isolated from Salmonella typhi (13.0%) and Escherichia coli (8.7%). Klebsiella spp (7.1%) and Escherichia coli (5.0%) were detected in cytobacteriological examination of urine. Salmonella typhi (23.5%) and Escherichia coli (5.9%) were isolated on coproculture. Conclusion: Bacterial ecology appears not different from that usually observed in sickle-cell children. Salmonella and Escherichia coli were predominant.展开更多
Introduction: Sickle cell disease, which is the most common hereditary hemoglobinopathy in the world, attacks all body systems, particularly the kidneys. The view of this study was to investigate the predictive factor...Introduction: Sickle cell disease, which is the most common hereditary hemoglobinopathy in the world, attacks all body systems, particularly the kidneys. The view of this study was to investigate the predictive factors of kidney damage during sickle cell disease. Materials and methods: It was a retrospective, descriptive and analytical study on files of sickle cell patients hospitalized in the Hematology-Oncology Department of Donka University Hospital during a period from January 1, 2016 to December 31, 2019. Records of sickle cell patients with one or more renal abnormalities were retained. Sickle cell patients without kidney damage were also selected for a comparative study. Only patients without sickle cell disease were excluded. Results: Seventy-five (75) medical records were collected during the study period. From these cases, thirteen (13) records with kidney disease were observed, a frequency of 17%. The mean age of patients was 24.2 years for extremes of 10 and 65 years. The sex ratio was 1.6 in favor of men. The SSFA2 form was the most represented with 92%. 24-hour proteinuria was measured in 13 patients between whom 6 patients (46.2%) had a proteinuria level ≤ 1 g. Eight (8) patients (61.5%) were in stage 1 of chronic kidney disease. The most common type of renal involvement was tubulo-interstitial nephropathy with 8 patients (61.5%). Bivariate analysis showed that elevated serum creatinine (P 2 form of the sickness (P Conclusion: After the observation of an increased serum creatinine and urea, a predominance observation of the SSFA2 form, it should be possible to target patients for whom screening for kidney damage should henceforth be systematic.展开更多
Introduction: Females with sickle cell disease (SCD), despite having a delayed pubertal development, are subject to many worries relating to their abilities to conceive, their capacity to maintain a maternofetal-risk-...Introduction: Females with sickle cell disease (SCD), despite having a delayed pubertal development, are subject to many worries relating to their abilities to conceive, their capacity to maintain a maternofetal-risk-free pregnancy till term and give birth to healthy children without sickle cell disease. Knowing that unplanned pregnancies are more likely to increase maternofetal morbidity and mortality, we sought out to explore the pregnancy preferences in female patients with sickle cell disease to promote healthy conception and childbirth in this vulnerable population. Methodology: We conducted a cross-sectional study involving female patients of child-bearing age with sickle cell disease followed at Laquintinie Hospital Douala or who were members of a local sickle cell association. Pregnancy preferences were determined using the Desire to Avoid Pregnancy (DAP) scale. Factors associated with pregnancy preferences were determined using multivariable linear regression model. Threshold for significance was set at p Results: Seventy-seven patients were included with a mean age of 24.71 ± 5.53 years. Forty patients (51.95%) had one sexual partner and thirteen women (32.5%) used contraceptive methods. Most patients (46.0%) responded “Strongly Agree” or “Agree” to the statement “it would be a good thing for me if I became pregnant in the next 3 months”. The mean DAP score was 1.63 ± 0.91 [1.28 ± 0.82 in those who had a sexual partner and 1.99 ± 0.86 in those who had no sexual partner]. Factors that were positively associated with DAP score were students (b = 0.32, 95% CI [0.21, 0.95], p = 0.003), monthly income ≥ 100,000 FCFA (b = 0.24, 95% CI [0.07, 0.81], p = 0.022), and not having a sexual partner (b = 0.26, 95% CI [0.11, 0.85], p = 0.012). Conclusion: Most female patients with SCD have a low desire to avoid pregnancy. This is especially true for patients who are not students, have a partner and have a low monthly income.展开更多
文摘BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.
文摘Sickle cell anemia (SCA) is a prevalent genetic disorder primarily affecting individuals of African descent and populations in malaria-endemic regions, with significant global public health implications. Sickle cell crises are their most common acute complication, characterized by episodes of intense pain and systemic manifestations that impair quality of life and impose a high healthcare burden. We present the case of a 19-year-old male diagnosed with SCA since the age of two, who developed a sickle cell crisis precipitated by right basal pneumonia. The patient exhibited sudden-onset, cyclic lumbar pain with progressive dyspnea. Initial management included multimodal pain control, volume optimization, and targeted antimicrobial therapy to achieve clinical stabilization. This case underscores the importance of a comprehensive approach to managing sickle cell crises, addressing both symptomatic relief and the prevention and treatment of complications. It also highlights the need for public health strategies promoting early diagnosis, access to disease-modifying therapies such as hydroxyurea, and interdisciplinary follow-up to mitigate the socioeconomic and clinical impact of SCA.
文摘Sickle cell disease(SCD)is a genetic disorder that predisposes affected individuals to a range of complications,including an increased susceptibility to viral infections.These infections present significant clinical challenges due to the underlying immunocompromised state in SCD patients.This review examines the interaction between viral infections and SCD,highlighting the vulnerabilities and the impact of these infections on morbidity and mortality in this population.Advances in antiviral therapies have significantly improved outcomes,yet managing viral infections in SCD patients requires special consideration due to drug-to-drug interactions,altered pharmacokinetics,and the potential exacerbation of SCDrelated complications.Additionally,vaccination strategies against viral infections and the emerging role of prophylactic antiviral treatments are discussed as critical components of infection prevention.By focusing on both established and novel antiviral treatments,this article aims to provide a comprehensive overview of the challenges and opportunities in managing viral infections in patients with SCD.
文摘Sickle cell disease(SCD)is a genetic disorder characterized by chronic hemolysis and vaso-occlusive crises(VOCs),leading to musculoskeletal complications that significantly affect quality of life.Among these,shoulder complications are a concern,with humeral head avascular necrosis(AVN)being the second most common site of involvement after the femoral head.Other shoulder pathologies,including osteomyelitis and septic arthritis,further contribute to morbidity.However,these conditions remain underdiagnosed and understudied,often due to overlapping symptoms with VOC-related bone infarctions.Imaging,particularly magnetic resonance imaging,is crucial for early diagnosis and accurate differentiation.Management strategies range from conservative pain control to surgical interventions,including core decompression for early-stage AVN and arthroplasty for advanced joint destruction.Surgical outcomes in SCD,however,remain inconsistent due to higher complication rates and a lack of standardized guidelines.Despite advancements in diagnosis and treatment,shoulder pathology in SCD remains an area of limited research.This review highlights the need for larger,long-term studies with a homogeneous etiology to support and refine current treatment strategies and improve patient outcomes.
文摘Background: Sickle cell anemia(SCA), a genetic hemoglobin disorder, suggests essential inner ear compromise and poor auditory processing. In humans, auditory processing differs physiologically between males and females, possibly true for SCA due to gender-specific disease pathophysiological changes. Objective: To investigate gender differences in psychoacoustical abilities, and speech perception in noise in SCA individuals and further compare with normal healthy(NH) population. Methods: 80 SCA and 80 NH normal-hearing participants aged 15-40 years were included and further grouped based on gender. Auditory discrimination for frequency, intensity, and duration at 500Hz and 4000Hz;temporal processing(Gap detection threshold & Modulation Detection Threshold) and Speech Perception In Noise(SPIN) at 0d BSNR tests were evaluated and compared between males and females of SCA and NH population. Results: SCA performed poorer compared to NH for all experimental measures. In the NH population, males performed poorer than females in psychoacoustical measures whereas within the SCA population, the reverse was true. Female participants performed better in the SPIN test in both populations. Conclusions: The adverse impact of SCA on the auditory system due to circulatory changes might cause poorer performance in SCA. Poorer performance by Female SCA is possibly due to the contrary impact of lower Hb level overlying Sickle disease.Estrogen levels and gender preference in auditory processing might lead to better performance by females within the NH population. SPIN performance depends on different attentional demands and sensorimotor processing strategies in noise beyond psychoacoustical processing may lead to better female performance in both populations.
文摘Introduction: The association of sickle cell disease and pregnancy is a risky situation for the mother as well as the fetus and even the neonate. The objective of this work was to study the maternal and perinatal prognosis of pregnancies in women with sickle cell disease at CHUD-Borgou/Alibori from 2019 to 2023. Patients and Methods: This was a case-control study with a retrospective collection of data from January 1, 2019 to June 30, 2023. It covered sickle cell and non-sickle cell women and their neonates who having given birth at the maternity ward of CHUD-Borgou/Alibori. Results: The frequency of pregnant women with sickle cell disease was 1.36% (153/11212). The average age of the pregnant women with sickle cell disease was 26.77 years ± 5.03. Vaso-occlusive crisis (VOC) was the main complication observed in pregnant women with sickle cell disease during pregnancy (26%). Regarding the complications common to the 2 groups of pregnant women, urinary tract infections (18.1%), severe anemia (22.8%), and severe malaria (26.8%) were more reported in sickle cell patients with a statistically significant difference (p-value = 0.000). Delivery was premature in 61.9% of pregnant women with sickle cell disease compared to 18.5% in pregnant women without sickle cell disease, with a significant difference (p-value = 0.000). The main route of delivery among patients with sickle cell disease was cesarean section (94.4%), while it was vaginal delivery (50.4%) among non-sickle cell pregnant women. VOC (4.8%), severe anemia (39.7%), and acute pulmonary edema (2.4%) were the main complications reported among sickle cell pregnant women in the immediate postpartum period with a significant difference (p-value = 0.000). Three cases of maternal death (2.4%) were recorded in pregnant women with sickle cell disease. The neonatal pathologies identified in the neonates of pregnant women with and without sickle cell disease were mainly neonatal bacterial infection (20.0% vs. 17.2%), hypotrophy (17.0% vs. 5.7%), prematurity (14.8% vs. 7.3%) with a significant difference (p-value = 0.000). The perinatal mortality rate was 57.14‰ in sickle cell women compared to 30‰ with a significant difference (p-value = 0.000). Conclusion: Pregnancy in women with sickle cell disease carries a high risk of maternal and perinatal morbidity and mortality. Information, awareness raising among populations and the adaptation of prenatal care are essential.
文摘Objective:This study aimed to investigate the effect of empowerment-based interventions on selfefficacy and self-care capacity among adults with sickle cell disease(SCD).Methods:A randomized control trial was conducted[NCT06296654].A total of 76 patients were recruited by using a cluster sampling technique in the two health centers in Bahrain from February to May 2022 and randomly allocated to the intervention group(n=38)or control group(n=38).The intervention group received the empowerment-based intervention implemented through structured small-group discussion sessions,individualized consultations(5A model:assess,advise,agree,assist,and arrange),and follow-up sessions,while the control group received routine health education.The Sickle Cell Self-Efficacy Scale(SCSES)and the Appraisal of the Self-Care Agency Scale-Revised(ASA-R)were measured at baseline and one month after the intervention among two groups of patients.Results:A total of 68 patients completed the study(36 patients in the intervention group and 32 patients in the control group).After the intervention,the score of SCSES in the intervention group was 37.0(35.0,39.8)higher than the control group 28.0(25.2,32.0)(U=-6.121,P<0.001);the score of ASA-R in the intervention group was 61.0(58.3,65.0)higher than the control group 49.0(43.3,53.0)(U=-0.653,P<0.001).Conclusion:Adopting the empowerment-based intervention using the 5As model effectively improves self-efficacy and self-care capacity among patients with SCD.
文摘Introduction: Sickle cell disease is one of the most common autosomal recessive inherited diseases. Its prevalence is increasing due to the perpetuity of carriers of the trait who are able to marry. Women aged 18 to 35 years constitute the most reproductive age group. This study was conducted with the aim of determining the prevalence of sickle cell trait among women aged 18 to 35 years and the attitude of women carriers towards the choice of a carrier spouse. Materials and methods: This was a cross-sectional descriptive study with analytical aims conducted from March to September 2024 in Kisangani. A total of 215 women aged 18 to 35 years presented for screening for sickle cell trait. This study described the following parameters: Sociodemographic data (age, level of education, socioeconomic level, marital status), obstetric and medical history (obstetric formula, sickle cell disease, high blood pressure, diabetes mellitus, asthma), knowledge of sickle cell disease (etiological classification, transmission, prevention, high-risk marriages, clinical manifestations, progression of the disease), attitude of the woman in relation to the choice of an AS spouse, as well as the reasons justifying each attitude. Results: The prevalence of sickle cell trait was 23.7% (51/215). A total of 64.3% of respondents had accepted the choice of spouse before confirmation of carrier status and 73.8% had refused after confirmation of carrier status. Choice was significantly related to age (p-value = 0.027), occupation (p-value = 0.015), parity (p-value = 0.039) and gesture (p-value = 0.034) before test. The ignorance of the union at risk was associated with the risk (p = 0.005;OR: 9.10;CI 95%: 2.03 - 4.81) of accepting the choice of a spouse carrying the trait. Conclusion: The prevalence of sickle cell trait among women aged 18 to 35 years in Kisangani remains within the limits of that of the general population. The choice of a spouse carrying sickle cell trait is associated with the woman’s age, her profession, parity, gestation and her knowledge about high-risk unions. Screening campaigns and health education sessions enable women carrying sickle cell trait to make a wise choice.
文摘Research Background: Sickle cell trait has no treatment or cure and predominantly affects people who are Black, but can affect anyone of any race or ethnicity. While commonly incorrectly considered benign by providers and the public, people with a sickle cell trait experience life-threatening outcomes that are exacerbated by extreme conditions. There is a severe lack of awareness and understanding of sickle cell trait and the associated health complications among sickle cell trait carriers and healthcare providers. Purpose/Aim: Interventions that aim to improve awareness of sickle cell trait differ in approaches and are not well documented in the literature. This typology aims to highlight current efforts to inform targeted interventions that raise awareness through consistent messaging, educate people and providers on sickle cell trait and the related health complications, and support the design and implementation of comprehensive sickle cell trait awareness initiatives. Methods: We conducted a scoping review of United States-based sickle cell trait interventions and performed a content analysis to identify the categories and characteristics of these efforts. We then organized the results into a typology according to established protocols. Results: Among 164 interventions, twenty-five (15%) met the typology inclusion criteria described above and were grouped into categories: Seven of twenty-five interventions were Educational Interventions (28%), three of twenty-five interventions (12%) were Combined Screening and Educational-Based Interventions, eight of twenty-five interventions (32%) were Policy and Guideline-Based Intervention, and six of twenty-five interventions (24%) were Sickle Cell Trait Organization-Led Interventions. Conclusions: There is a lack of consistency in messaging across interventions whether delivered by credible healthcare institutions or national organizations, which can result in lack of education and awareness and confusion around sickle cell trait. Categorizing interventions through a typology allows clarity and informs consistency in messaging, which should be at the forefront of future sickle cell trait efforts.
文摘Sickle cell disease(SCD)is a widespread hemoglobinopathy that results in significant patient morbidity and mortality.Vascular occlusion can cause acute pain,acute chest syndrome,and avascular necrosis,while hemolysis and endothelial disruption can cause ischemic stroke,leg ulcers,pulmonary hypertension,and priapism.All ocular and orbital structures can be affected by SCD ischemic events,including orbital bone infarction,ischemic optic neuropathy,retinal artery occlusion,hyphema,secondary glaucoma,sickle cell maculopathy,and sickle cell retinopathy.Proliferative sickle cell retinopathy(PSR)is the most common cause of vision loss.Untreated PSR can lead to macular ischemia,vitreous hemorrhage,and tractional retinal detachment.Ophthalmic screening exams and multimodal imaging can lead to earlier detection of sickle cell retinopathy and improved patient outcomes.SCD patients undergoing vitreoretinal surgery may require coordination of care with hematologists to avoid ischemic complications.While hydroxyurea was the only United States Food and Drug Administration approved treatment for several decades,patients with SCD now have several more treatment options.Despite the United States screening all infants for SCD,there can be delays in diagnosis and treatment.This review article aims to provide an overview of sickle disease for the ophthalmologist,and to discuss emerging treatment options and current management of SCD ocular complications.
文摘Sickle cell disease (SCD) is a prevalent condition, particularly in the countries of sub-Saharan Africa, where the presence of specific genes associated with Malaria contributes to its high prevalence. Patients with sickle cell disease frequently experience painful episodes necessitating hospitalization, and their hemoglobin levels are typically lower than those of the general population. There are different treatment options available to manage complications, such as transfusing blood, hydroxyurea, and strong anti-pains. However, with all these treatments, patients still commonly experience pain crises and suffer from organ damage. Hydroxyurea, the sole approved medication for sickle cell anemia in developed and developing countries, is widely used in children despite being primarily indicated for adults. Multiple studies have demonstrated the efficacy of hydroxyurea in inducing HbF production in young children with SCD. Elevated HbF levels have been associated with improved clinical outcomes, including a reduction in vaso-occlusive crises, acute chest syndrome, and the need for blood transfusions. Furthermore, increased HbF levels have been shown to ameliorate disease-related organ damage, such as pulmonary hypertension and sickle cell retinopathy. The response to hydroxyurea treatment in young children with SCD is variable. Some patients achieve substantial increases in HbF levels and experience significant clinical benefits, while others may have a more modest response. Factors influencing the response include baseline HbF levels, genetic modifiers, treatment adherence, and dose optimization. Safety is a crucial consideration when using hydroxyurea in young children. Studies have shown that hydroxyurea is generally well-tolerated, with the most common adverse effects being myelosuppression, gastrointestinal symptoms, and dermatological manifestations. However,long-term effects and potential risks, such as renal dysfunction and reproductive impacts, require further investigation. The effectiveness of hydroxyurea in young children with SCD has been demonstrated in various clinical trials and observational studies. These studies have shown a significant reduction in disease-related complications and improved quality of life. However, optimal dosing, treatment duration, and long-term outcomes are still areas of ongoing research. This review focuses on recent studies investigating the benefits, effectiveness, responses, and safety of hydroxyurea in pediatric individuals diagnosed with sickle cell disease.
文摘Introduction: In view of the number of sickle cell patients and due to a low production of descriptive studies, we decided to determine the prevalence of genes S and C of the disease in the Zinder region. The objective was to contribute to improving the management of sickle cell disease in Zinder. Methodology: This was a systematic screening by the “Sickle Scan” test of any blood donor admitted to the Zinder Regional Blood Transfusion Center during the 6-month study period, from January to June 2023. The Sickle Scan is a qualitative lateral flow chromatography immunoassay using whole blood samples that aid in the rapid diagnosis of sickle cell disease. Results: The study was carried out on 613 samples during the period concerned. The frequency of sickle cell genes was 26.9% (n = 165) in all samples collected, with 23.1% (n = 142) and 3.8% (n = 23) for the S gene and the C gene, respectively. The 18 - 30 age group was the most represented with 64.4% (n = 395) cases. The median age of blood donors was 26 years ± 10 years (min = 18 years/max = 60 years). The sex ratio was 2.5. Donors of Nigerien nationality accounted for 84.1% (n = 516). There is a predominance of blood donors with an average monthly income between 34,000 and 70,000 CFA francs in 44.3% (n = 272), lived in permanent housing with drinking water supply. Sickle cell trait (SMA) was found in 22.5% (n = 138). Conclusion: The analysis of these results highlights a high frequency of the S gene for sickle cell disease. The population with an average monthly income is the most affected, with a male predominance.
文摘Introduction: Sickle cell anaemia is a hereditary disease that combines physical and psychological manifestations, including suicidal tendencies. So far, to our knowledge, no study has been conducted on suicidal behaviours among people with sickle cell disease in Cameroon. This is what justifies our study on the prevalence and factors related to suicidal behaviors in our study population. Methods: We conducted a cross-sectional, analytical study of 171 sickle cell patients aged from 12 years upwards who came to the sickle cell disease care service of the Laquintinie Hospital in Douala, over a period of 6 months, that is, from 1 January to 31 June 2022. Data were collected using a structured questionnaire with questions on suicidal behaviours based on the “MINI” (Mini International Neuropsychiatric Interview). The data were processed using the SPSS 26.0 software. The related factors were studied in both a bivariate and multivariate analysis. Results: Female sickle cell patients accounted for 60.2% of the sample. The mean age was 23.36 ± 8.42 years. Suicidal ideation was prevalent in 56% of cases and 13% attempted suicide. The factors most associated with suicidal ideation were: primary level of education (OR = 0.08 (0.09 - 0.79);p = 0.03), feeling unworthy of life (OR = 0.40 (0.08 - 1.96);p = 0.02), not often being considered by those around them (OR = 2.97 (1.26 - 6.99);p = 0.01), lack of family support (OR = 0.34 (0.15 - 0.77);p = 0.01). Meanwhile, the factors associated with suicide attempts were: the fact of being rarely exposed to suicide-related media (OR = 4.17 (1.40 - 71.80);p = 0.03), and a constant feeling of sadness when returning home (OR = 18.02 (1.59 - 20.55);p = 0.01). Conclusion: More than half of sickle cell patients had had suicidal thoughts and 1/6 had made at least one suicide attempt, women and young adults being the most concerned. It is therefore necessary to ensure optimum psychological care for patients with sickle cell disease.
文摘Sickle Cell Anemia(SCA)is a prevalent genetic condition in Saudi Arabia,particularly in the Jazan region.The study’s purpose was to assess the prevalence of de-pression among individuals with SCA in this area and to identify the factors associated with this condition.The study involved 391 adult participants,all patients in the hematology center of Prince Mohammed bin Nasser Hospital(PMNH).Data was collected through an anonymous interview questionnaire–the Arabic version of the Patient Health Questionnaire-9(PHQ-9)–between March–May 2022.The questionnaire covered socio-demographic information and variables related to the participant’s SCA history,such as pain levels,frequency of pain,hospitalization duration,and frequency of blood transfusions.These variables underwent Chi-square and One-way ANOVA testing,followed by multivariate regression.The study found a 42%prevalence of depression among the SCA patients.Factors significantly linked with heightened depression levels included being widowed or divorced,experiencing frequent and severe pain,and longer duration of hospital stays.An educational level of at least a bachelor’s degree was also a significant factor.The study reveals a high prevalence of depression among SCA patients in the Jazan region.It underscores the need for policymakers to educate both physicians and patients about the importance of mental health in SCA management.The study also highlights the need for more research into the specific causes and effects of depressive symptoms in SCA patients to inform the creation of effective management plans.
文摘Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been assessed yet. Therefore the objective of this study is to identify in Abidjan the HbS haplotypes that modulate HU treatment responses. Methods: In a cross-sectional descriptive and analytical study, children aged 5 to 15 years with SCD, and carrying the hemoglobin phenotypes SSFA2 and SFA2, were recruited into a HU treatment cohort. Various parameters on the haplotypes and the outcomes of the treatment were analyzed. Results: Thirty nine children with SCD were included. The phenotypic profile of the cohort was 86.6% of SSFA2 and 15.4% of SFA2. Three haplotypes were found, the Benin haplotype, the Senegal haplotype, and an atypical one. The participants belonged to three genotypes, Benin/atypical (64.1%), Benin/Senegal (33.3%) and Senegal/Senegal (2.6%). Overall, HU treatment was successful in all haplotypes with 12 out of 39 patients failing treatment after 12 months in the Benin haplotype group. The association between HU treatment success and the Benin haplotype was found in terms of the decrease in the number of white blood cells and the students missing class. Conclusion: The study revealed that inferring haplotype based on the phenotypic profile could be inaccurate. The proportion of atypical haplotype that were not previously described in Côte d’Ivoire was high. All the haplotypes seemed to be associated with HU treatment success but some patients with Benin haplotype did not respond well.
文摘Introduction: Sickle cell disease is a public health problem in sub-Saharan Africa. A national referral center for the management of infants and pregnant women with sickle cell disease (CPMI-NFED) was created three decades ago in Cotonou, in the south of Benin with two regional branches including that of Parakou in the North for better access of patients to specialized care. This work is a review of five years of activities in order to describe the epidemiological, clinical, hematological and evolutionary profiles of the children followed up in the said branch. Method: This was a descriptive and retrospective cross-sectional study on the medical records of children with sickle cell disease, followed up at the regional branch of CPMI-NFED in Borgou/Alibori from June 1, 2017 to May 31, 2022. The variables studied were epidemiological, clinical, biological and evolutionary. Results: A total of 101 children with sickle cell disease were included in the study, including 78 homozygous SS (77.2%) and 23 heterozygous SC (22.8%). Their mean age at inclusion was 51.2 ± 37.6 months [6 - 204]. The sex ratio was 1.4. Vaso-occlusive crises were the main diagnostic circumstances in 42.3% of homozygotes. More than half of the children (51.5%) had a regular follow-up. The average baseline level of hemoglobin (Hb) in homozygous children was 8.8 ± 1.4 g/dl [5.8 - 11.5];and the rate of Hb S varied between 61.9 and 94.7%. In heterozygous SC children, the mean baseline level of Hb was 10.7 ± 0.6 g/dl [9.7 - 11.5]. Acute complications observed during follow-up were dominated by pneumonia and vaso-occlusive crises in both phenotypes. The overall mortality was 3% and only affected homozygous patients. Conclusion: On average, three out of four children were homozygous in our cohort. The main acute complications were infectious and vaso-occlusive. The mortality only affected homozygous carriers. Specialized follow-up has contributed to improving the quality of life of children with sickle cell disease. This could be implemented on a large scale for better survival of children with sickle cell disease.
文摘Femoral neck fracture is classically a traumatic pathology in the elderly but it can also occur in young people during a road traffic accident or occasionally when the femoral neck has been weakened by a pathological process. In sickle cell patients, the hip is often subjected to aseptic necrosis. The authors report the case of the child NL, aged 5 years and 4 months in whom a fracture of the femoral neck classified Delbet 3 was found as well as his sickle cell status discovered and in whom treatment by surgical abstention was carried out with a favorable evolution. This association of factors of the femoral head necrosis or nonunion is unusual and confirms the osteogenetic potential of a child. However, monitoring is necessary because other anomalies may reveal themselves.
文摘Introduction: Infections are significant causes of mortality in sickle cell children in resource-limited countries. This study aimed to determine the clinical profile and bacterial ecology of infections in children with sickle-cell disease in two referral hospitals in Niamey. Patients and methods: A retrospective descriptive study was conducted from January 2018 to July 2020 in two referral hospitals in Niamey. All children aged one (1) to 15 years with sickle cell disease admitted for suspected infection, including at least one bacterial culture, were studied. Bacteriological analysis was performed using the appropriate culture media, using BactAlert (Reference 4700003 BTA3D60 BioMérieux). Results: Over 36-months, 350 children with a mean age of 10.9 months were admitted. The sex ratio was 1.2. The SS electrophoretic profile was the most common (93.4%). Immunization status was up to date in 66% of patients. Fever was the common reason for consultation (55.1%). Infection was confirmed in 62 patients (17.7%). The primary diagnoses were bacterial gastroenteritis (24.2%) and urinary tract infection (19.4%). Blood cultures were isolated from Salmonella typhi (13.0%) and Escherichia coli (8.7%). Klebsiella spp (7.1%) and Escherichia coli (5.0%) were detected in cytobacteriological examination of urine. Salmonella typhi (23.5%) and Escherichia coli (5.9%) were isolated on coproculture. Conclusion: Bacterial ecology appears not different from that usually observed in sickle-cell children. Salmonella and Escherichia coli were predominant.
文摘Introduction: Sickle cell disease, which is the most common hereditary hemoglobinopathy in the world, attacks all body systems, particularly the kidneys. The view of this study was to investigate the predictive factors of kidney damage during sickle cell disease. Materials and methods: It was a retrospective, descriptive and analytical study on files of sickle cell patients hospitalized in the Hematology-Oncology Department of Donka University Hospital during a period from January 1, 2016 to December 31, 2019. Records of sickle cell patients with one or more renal abnormalities were retained. Sickle cell patients without kidney damage were also selected for a comparative study. Only patients without sickle cell disease were excluded. Results: Seventy-five (75) medical records were collected during the study period. From these cases, thirteen (13) records with kidney disease were observed, a frequency of 17%. The mean age of patients was 24.2 years for extremes of 10 and 65 years. The sex ratio was 1.6 in favor of men. The SSFA2 form was the most represented with 92%. 24-hour proteinuria was measured in 13 patients between whom 6 patients (46.2%) had a proteinuria level ≤ 1 g. Eight (8) patients (61.5%) were in stage 1 of chronic kidney disease. The most common type of renal involvement was tubulo-interstitial nephropathy with 8 patients (61.5%). Bivariate analysis showed that elevated serum creatinine (P 2 form of the sickness (P Conclusion: After the observation of an increased serum creatinine and urea, a predominance observation of the SSFA2 form, it should be possible to target patients for whom screening for kidney damage should henceforth be systematic.
文摘Introduction: Females with sickle cell disease (SCD), despite having a delayed pubertal development, are subject to many worries relating to their abilities to conceive, their capacity to maintain a maternofetal-risk-free pregnancy till term and give birth to healthy children without sickle cell disease. Knowing that unplanned pregnancies are more likely to increase maternofetal morbidity and mortality, we sought out to explore the pregnancy preferences in female patients with sickle cell disease to promote healthy conception and childbirth in this vulnerable population. Methodology: We conducted a cross-sectional study involving female patients of child-bearing age with sickle cell disease followed at Laquintinie Hospital Douala or who were members of a local sickle cell association. Pregnancy preferences were determined using the Desire to Avoid Pregnancy (DAP) scale. Factors associated with pregnancy preferences were determined using multivariable linear regression model. Threshold for significance was set at p Results: Seventy-seven patients were included with a mean age of 24.71 ± 5.53 years. Forty patients (51.95%) had one sexual partner and thirteen women (32.5%) used contraceptive methods. Most patients (46.0%) responded “Strongly Agree” or “Agree” to the statement “it would be a good thing for me if I became pregnant in the next 3 months”. The mean DAP score was 1.63 ± 0.91 [1.28 ± 0.82 in those who had a sexual partner and 1.99 ± 0.86 in those who had no sexual partner]. Factors that were positively associated with DAP score were students (b = 0.32, 95% CI [0.21, 0.95], p = 0.003), monthly income ≥ 100,000 FCFA (b = 0.24, 95% CI [0.07, 0.81], p = 0.022), and not having a sexual partner (b = 0.26, 95% CI [0.11, 0.85], p = 0.012). Conclusion: Most female patients with SCD have a low desire to avoid pregnancy. This is especially true for patients who are not students, have a partner and have a low monthly income.
