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
AIM:To evaluate the role of endoscopic retrograde cholangiopancreatography(ERCP) in patients with sickle cell disease(SCD) .METHODS:Two hundred and twenty four SCD patients with cholestatic jaundice(CJ) had ERCP.The i...AIM:To evaluate the role of endoscopic retrograde cholangiopancreatography(ERCP) in patients with sickle cell disease(SCD) .METHODS:Two hundred and twenty four SCD patients with cholestatic jaundice(CJ) had ERCP.The indications for ERCP were based on clinical and biochemical evidence of CJ and ultrasound findings.RESULTS:Two hundred and forty ERCPs were performed.The indications for ERCP were:CJ only in 79,CJ and dilated bile ducts without stones in 103,and CJ and bile duct stones in 42.For those with CJ only,ERCP was normal in 42(53.2%) ,and 13(16.5%) had dilated bile ducts without an obstructive cause.In the remaining 22,there were bile duct stones with or without dilation.For those with CJ,dilated bile ducts and no stones,ERCP was normal in 17(16.5%) ,and 28(27.2%) had dilated bile ducts without an obstructive cause.In the remaining 58,there were bile ducts stones with or without dilation.For those with CJ and bile duct stones,ERCP was normal in two(4.8%) ,and 14(33.3%) had dilated bile ducts without an obstructive cause.In the remaining 26,there were bile duct stones with or without dilatation.CONCLUSION:Considering the high frequency of biliary sludge and bile duct stones in SCD,endoscopic sphincterotomy might prove helpful in these patients.展开更多
Sickle cell disease(SCD) is a common hemoglobinopathy which can affect multiple organ systems in the body. Within the digestive tract, the hepatobiliary system is most commonly affected in SCD. The manifestations rang...Sickle cell disease(SCD) is a common hemoglobinopathy which can affect multiple organ systems in the body. Within the digestive tract, the hepatobiliary system is most commonly affected in SCD. The manifestations range from benign hyperbilirubinemia to overt liver failure, with the spectrum of acute clinical presentations often referred to as "sickle cell hepatopathy". This is an umbrella term referring to liver dysfunction and hyperbilirubinemia due to intrahepatic sickling process during SCD crisis leading to ischemia, sequestration and cholestasis. In this review, we detail the pathophysiology, clinical presentation and biochemical features of various acute and chronic hepatobiliary manifestations of SCD and present and evaluate existing evidence with regards to management of this disease process. We also discuss recent advances and controversies such as the role of liver transplantation in sickle cell hepatopathy and highlight important questions in this field which would require further research. Our aim with this review is to help increase the understanding, aid in early diagnosis and improve management of this important disease process.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
Acute soft head syndrome or sickle cell cephalohematoma is not a common sequel or complication of Sickle cell disease (SCD). Here we describe a case report of a 15-year old Saudi male with sickle cell disease who pres...Acute soft head syndrome or sickle cell cephalohematoma is not a common sequel or complication of Sickle cell disease (SCD). Here we describe a case report of a 15-year old Saudi male with sickle cell disease who presented with generalized vaso-occlusive crisis. 48 hours post admission, he developed generalized scalp swelling which is consistent with one of the rare complications of sickle cell disease, acute soft head syndrome. The patient was treated conservatively, without aspiration of the scalp swelling. This case draws attention that acute soft head syndrome should be one of the differential diagnoses of scalp pain and swelling in patients with sickle cell disease.展开更多
Background: Sickle cell anemia is caused by a mutation in the beta globin gene, resulting in the production of sickle hemoglobin, which is less soluble than normal hemoglobin. The main disease features are related to ...Background: Sickle cell anemia is caused by a mutation in the beta globin gene, resulting in the production of sickle hemoglobin, which is less soluble than normal hemoglobin. The main disease features are related to hemolytic anemia and blood vessels occlusion, causing ischemia and infracts. Acute chest syndrome is one of its most dangerous manifestations, and may cause severe hypoxemia and acute respiratory failure. Conservative management is often successful, but in rare cases the syndrome may be refractory. Extracorporeal membrane oxygenation (ECMO) support may be life-saving in these extreme situations. Case Report: A 31-year-old male admitted to the intensive care unit (ICU) in our hospital due to acute chest syndrome and massive aspiration. Due to extreme hypoxemia and severe acute respiratory distress syndrome, veno-venous ECMO support was initiated with rapid improvement in both oxygenation and hemodynamic status. The patient was weaned of ECMO after 7 days. He was discharged 4 weeks later. Although initiation of ECMO in sickle cell patients is uncommon, in selected refractory cases it may be life-saving. Conclusion: Although initiation of ECMO therapy in sickle cell anemia patients is uncommon, and may be even controversial, in selected refractory cases it may be life-saving.展开更多
Introduction: Laparoscopic cholecystectomy is the gold standard in the treatment of gallstones and lithiasis cholecystitis. It reduces post-operative complications especially in sickle cell patients. Aim: The aim of t...Introduction: Laparoscopic cholecystectomy is the gold standard in the treatment of gallstones and lithiasis cholecystitis. It reduces post-operative complications especially in sickle cell patients. Aim: The aim of this work was to compare the results of laparoscopic cholecystectomy in sickle cell and non-sickle cell patients. Methods: Sixty-six patients including 25 sickle cell patients and 41 non-sickle cell patients were identified from March 2013 to November 2014 (20 months). The χ2 test was used for comparisons. Values of p < 0.05 were used for a statistically significant difference threshold. Results: The mean age was 25.76 years for the sickle cell group and 45.61 years for the non-sickle cell group (p = 0.00008). There were 14/25 female patients in the sickle cell group and 28/41 in the non-sickle cell group. In per op, the diagnosis of acute cholecystitis was retained for 4/25 sickle cell patients and for 10/41 non-sickle cell patients. Diagnoses such as pyocholecyst (2 cases), porcelain vesicle (2 cases), hydrocholecyst (2 cases) were found in the group of non-sickle cell patients. Operative difficulties such as tight perivicular adhesions were encountered 9/25 times in the sickle cell group and 11/41 times in the non-sickle cell group. The average overall operative time was 55 min. There was no statistically significant difference between the different groups in mean operative time, occurrence of postoperative complication and average length of hospital stay. The mortality is not statistically different according to the group of patients. Conclusion: There is no significant difference between the cholecystectomy performed in sickle cell patients and that performed in non-sickle cell patients. The multidisciplinary perioperative management of sickle cell patients reduces the risk of complications arising from this pathology.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
Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all amon...Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.展开更多
Whether the underlying mutations are homozygous,heterozygous,or coinherited with other hemoglobinopathies,sickle cell disease is known to afflict the kidneys,leading to the clinical entity known as sickle cell nephrop...Whether the underlying mutations are homozygous,heterozygous,or coinherited with other hemoglobinopathies,sickle cell disease is known to afflict the kidneys,leading to the clinical entity known as sickle cell nephropathy(SCN).Although common,SCN remains diagnostically elusive.Conventional studies performed in the context of renal disorders often fail to detect early stage SCN.This makes the quest for early diagnosis and treatment more challenging,and it increases the burden of chronic kidney disease-related morbidity among patients.Novel diagnostic tools have been employed to overcome this limitation.In this study,we discuss various biomarkers of SCN,including those employed in clinical practice and others recently identified in experimental settings,such as markers of vascular injury,endothelial dysfunction,tubulo-glomerular damage,and oxidative stress.These include kidney injury molecule-1,monocyte chemoattractant protein-1,N-acetyl-B-D-glucosaminidase,ceruloplasmin,orosomucoid,nephrin,and cation channels,among others.Furthermore,we explore the potential of novel biomarkers for refining diagnostic and therapeutic approaches and describe some obstacles that still need to be overcome.We highlight the importance of a collaborative approach to standardize the use of promising new biomarkers.Finally,we outline the limitations of conventional markers of renal damage as extensions of the pathogenic process occurring at the level of the organ and its functional subunits,with a discussion of the expected pattern of clinical and biochemical progression among patients with SCN.展开更多
Sickle cell disease is a hemoglobinopathy that results in paroxysmal vascular occlusion and tissue infarction that can manifest in a plurality of tissues. Vasoocclusive crises in sickle cell disease commonly involve b...Sickle cell disease is a hemoglobinopathy that results in paroxysmal vascular occlusion and tissue infarction that can manifest in a plurality of tissues. Vasoocclusive crises in sickle cell disease commonly involve bone marrow of the long bones and vertebrae. Involvement of bones with less marrow space, including the bones of the orbit, is reported rarely in the literature and can closely mimic orbital cellulitis, both clinically and radiologically. The present case is a 3 years old boy, a known case of sickle cell disease, who presented with what was thought to be orbital cellulitis and was treated accordingly. Subtle radiologic features of sickle cell orbitopathy were initially overlooked, resulting in an incorrect diagnosis and a treatment delay for the patient. Correctly treated most cases resolve with no adverse effects. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease, even when the presentation is not classic.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
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AIM:To evaluate the role of endoscopic retrograde cholangiopancreatography(ERCP) in patients with sickle cell disease(SCD) .METHODS:Two hundred and twenty four SCD patients with cholestatic jaundice(CJ) had ERCP.The indications for ERCP were based on clinical and biochemical evidence of CJ and ultrasound findings.RESULTS:Two hundred and forty ERCPs were performed.The indications for ERCP were:CJ only in 79,CJ and dilated bile ducts without stones in 103,and CJ and bile duct stones in 42.For those with CJ only,ERCP was normal in 42(53.2%) ,and 13(16.5%) had dilated bile ducts without an obstructive cause.In the remaining 22,there were bile duct stones with or without dilation.For those with CJ,dilated bile ducts and no stones,ERCP was normal in 17(16.5%) ,and 28(27.2%) had dilated bile ducts without an obstructive cause.In the remaining 58,there were bile ducts stones with or without dilation.For those with CJ and bile duct stones,ERCP was normal in two(4.8%) ,and 14(33.3%) had dilated bile ducts without an obstructive cause.In the remaining 26,there were bile duct stones with or without dilatation.CONCLUSION:Considering the high frequency of biliary sludge and bile duct stones in SCD,endoscopic sphincterotomy might prove helpful in these patients.
文摘Sickle cell disease(SCD) is a common hemoglobinopathy which can affect multiple organ systems in the body. Within the digestive tract, the hepatobiliary system is most commonly affected in SCD. The manifestations range from benign hyperbilirubinemia to overt liver failure, with the spectrum of acute clinical presentations often referred to as "sickle cell hepatopathy". This is an umbrella term referring to liver dysfunction and hyperbilirubinemia due to intrahepatic sickling process during SCD crisis leading to ischemia, sequestration and cholestasis. In this review, we detail the pathophysiology, clinical presentation and biochemical features of various acute and chronic hepatobiliary manifestations of SCD and present and evaluate existing evidence with regards to management of this disease process. We also discuss recent advances and controversies such as the role of liver transplantation in sickle cell hepatopathy and highlight important questions in this field which would require further research. Our aim with this review is to help increase the understanding, aid in early diagnosis and improve management of this important disease process.
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Acute soft head syndrome or sickle cell cephalohematoma is not a common sequel or complication of Sickle cell disease (SCD). Here we describe a case report of a 15-year old Saudi male with sickle cell disease who presented with generalized vaso-occlusive crisis. 48 hours post admission, he developed generalized scalp swelling which is consistent with one of the rare complications of sickle cell disease, acute soft head syndrome. The patient was treated conservatively, without aspiration of the scalp swelling. This case draws attention that acute soft head syndrome should be one of the differential diagnoses of scalp pain and swelling in patients with sickle cell disease.
文摘Background: Sickle cell anemia is caused by a mutation in the beta globin gene, resulting in the production of sickle hemoglobin, which is less soluble than normal hemoglobin. The main disease features are related to hemolytic anemia and blood vessels occlusion, causing ischemia and infracts. Acute chest syndrome is one of its most dangerous manifestations, and may cause severe hypoxemia and acute respiratory failure. Conservative management is often successful, but in rare cases the syndrome may be refractory. Extracorporeal membrane oxygenation (ECMO) support may be life-saving in these extreme situations. Case Report: A 31-year-old male admitted to the intensive care unit (ICU) in our hospital due to acute chest syndrome and massive aspiration. Due to extreme hypoxemia and severe acute respiratory distress syndrome, veno-venous ECMO support was initiated with rapid improvement in both oxygenation and hemodynamic status. The patient was weaned of ECMO after 7 days. He was discharged 4 weeks later. Although initiation of ECMO in sickle cell patients is uncommon, in selected refractory cases it may be life-saving. Conclusion: Although initiation of ECMO therapy in sickle cell anemia patients is uncommon, and may be even controversial, in selected refractory cases it may be life-saving.
文摘Introduction: Laparoscopic cholecystectomy is the gold standard in the treatment of gallstones and lithiasis cholecystitis. It reduces post-operative complications especially in sickle cell patients. Aim: The aim of this work was to compare the results of laparoscopic cholecystectomy in sickle cell and non-sickle cell patients. Methods: Sixty-six patients including 25 sickle cell patients and 41 non-sickle cell patients were identified from March 2013 to November 2014 (20 months). The χ2 test was used for comparisons. Values of p < 0.05 were used for a statistically significant difference threshold. Results: The mean age was 25.76 years for the sickle cell group and 45.61 years for the non-sickle cell group (p = 0.00008). There were 14/25 female patients in the sickle cell group and 28/41 in the non-sickle cell group. In per op, the diagnosis of acute cholecystitis was retained for 4/25 sickle cell patients and for 10/41 non-sickle cell patients. Diagnoses such as pyocholecyst (2 cases), porcelain vesicle (2 cases), hydrocholecyst (2 cases) were found in the group of non-sickle cell patients. Operative difficulties such as tight perivicular adhesions were encountered 9/25 times in the sickle cell group and 11/41 times in the non-sickle cell group. The average overall operative time was 55 min. There was no statistically significant difference between the different groups in mean operative time, occurrence of postoperative complication and average length of hospital stay. The mortality is not statistically different according to the group of patients. Conclusion: There is no significant difference between the cholecystectomy performed in sickle cell patients and that performed in non-sickle cell patients. The multidisciplinary perioperative management of sickle cell patients reduces the risk of complications arising from this pathology.
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Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.
文摘Whether the underlying mutations are homozygous,heterozygous,or coinherited with other hemoglobinopathies,sickle cell disease is known to afflict the kidneys,leading to the clinical entity known as sickle cell nephropathy(SCN).Although common,SCN remains diagnostically elusive.Conventional studies performed in the context of renal disorders often fail to detect early stage SCN.This makes the quest for early diagnosis and treatment more challenging,and it increases the burden of chronic kidney disease-related morbidity among patients.Novel diagnostic tools have been employed to overcome this limitation.In this study,we discuss various biomarkers of SCN,including those employed in clinical practice and others recently identified in experimental settings,such as markers of vascular injury,endothelial dysfunction,tubulo-glomerular damage,and oxidative stress.These include kidney injury molecule-1,monocyte chemoattractant protein-1,N-acetyl-B-D-glucosaminidase,ceruloplasmin,orosomucoid,nephrin,and cation channels,among others.Furthermore,we explore the potential of novel biomarkers for refining diagnostic and therapeutic approaches and describe some obstacles that still need to be overcome.We highlight the importance of a collaborative approach to standardize the use of promising new biomarkers.Finally,we outline the limitations of conventional markers of renal damage as extensions of the pathogenic process occurring at the level of the organ and its functional subunits,with a discussion of the expected pattern of clinical and biochemical progression among patients with SCN.
文摘Sickle cell disease is a hemoglobinopathy that results in paroxysmal vascular occlusion and tissue infarction that can manifest in a plurality of tissues. Vasoocclusive crises in sickle cell disease commonly involve bone marrow of the long bones and vertebrae. Involvement of bones with less marrow space, including the bones of the orbit, is reported rarely in the literature and can closely mimic orbital cellulitis, both clinically and radiologically. The present case is a 3 years old boy, a known case of sickle cell disease, who presented with what was thought to be orbital cellulitis and was treated accordingly. Subtle radiologic features of sickle cell orbitopathy were initially overlooked, resulting in an incorrect diagnosis and a treatment delay for the patient. Correctly treated most cases resolve with no adverse effects. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease, even when the presentation is not classic.
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.
