AIM: To establish a link between the risk of diabetes with haemoglobinopathies by examining available evidence of the effects of iron and blood glucose homeostasis from molecular to epidemiological perspectives.METHOD...AIM: To establish a link between the risk of diabetes with haemoglobinopathies by examining available evidence of the effects of iron and blood glucose homeostasis from molecular to epidemiological perspectives.METHODS: A systematic literature search was performed using electronic literature databases using various search terms. The International Diabetes Federation World Atlas was used to generate a list of populations with high rates of diabetes. Pub Med, Scopus and Google Scholar were used to identify which of these populations also had a reported prevalence of haemoglobin abnormalities.RESULTS: Abnormalities in iron homeostasis leads to increases in reactive oxygen species in the blood. This promotes oxidative stress which contributes to peripheral resistance to insulin in two ways:(1) reduced insulin/insulin receptor interaction; and(2) β-cell dysfunction. Hepcidin is crucial in terms of maintaining appropriate amounts of iron in the body and is in turn affected by haemoglobinopathies. Hepcidin also has other metabolic effects in places such as the liver but so far the extent of these is not well understood. It does however directly control the levels of serum ferritin. High serum ferritin is found in obese patients and those with diabetes and a meta-analysis of the various studies shows that high serum ferritin does indeed increase diabetes risk.CONCLUSION: From an epidemiological standpoint, it is plausible that the well-documented protective effects of haemoglobinopathies with regard to malaria may have also offered other evolutionary advantages. By contributing to peripheral insulin resistance, haemoglobinopathies may have helped to sculpt the so-called "thrifty genotype", which hypothetically is advantageous in times of famine. The prevalence data however is not extensive enough to provide concrete associations between diabetes and haemoglobinopathies- more precise studies are required.展开更多
The incidence of haemoglobinopathy is high in China,especially south of the Yangtze River.However,the exact status of haemoglobinopathy in Sichuan is unknown.To carry out a detailed research of haemoglobinopathy in in...The incidence of haemoglobinopathy is high in China,especially south of the Yangtze River.However,the exact status of haemoglobinopathy in Sichuan is unknown.To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan,13,298 subjects without clinical symptoms who were living in Sichuan Province,with an age distribution of 5e73 years,were included in this study.Between March 2014 and July 2017,these subjects received examinations at the Medical Lab of Chengdu Women’s&Children’s Central Hospital.Mean corpuscular volume(MCV)<82 fL or mean corpuscular haemoglobin(MCH)<27 pg was used to indicate haemoglobinopathy carriers.Abnormal haemoglobin was screened by electrophoresis,and genes were sequenced to identify genotypes.Genotype diagnosis of alpha-and beta-thalassaemia was carried out by using PCR and shunt hybridization.There were 638 suspected haemoglobinopathy carriers(4.80%,638/13,298).DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E.The frequency of heterozygosity for thalassaemia was 4.12%(1.48%for α-thalassaemia and 2.61%for β-thalassaemia)in Sichuan Province.The mutation spectrum of α-thalassaemia consisted of the five most common mutations:–^(SEA),-α^(3.7),-α^(4.2),α^(CS),and α^(QS).Seven types of β-thalassaemia mutation were found in this study:CD41-42(-TTCT)was the most frequent(28.47%),followed by 17(A>T),28(A>G),and IVS-Ⅱ-654(C>T).The main abnormal haemoglobin genotype(HbE)and thalassaemia genotype(–^(SEA),CD41-42(-TTCT))were consistent with those in other regions of China,but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.展开更多
SCD is one of the most prevailing homogeneous inherited haemoglobinopathies causing a plethora of various clinical complications to the patients. The high mortality and morbidity severely concern the Western community...SCD is one of the most prevailing homogeneous inherited haemoglobinopathies causing a plethora of various clinical complications to the patients. The high mortality and morbidity severely concern the Western community, where numerous clinical trials and research for a cure are in process. In order to alleviate patients from the severe symptoms of the disease, avoiding the side effects, Botanical Medicine exhibits concrete evidence, as a gold candidate, to be the salvation to the problem. The Preferred Reporting Items for Systematic Review (PRISMA) protocol has been used to achieve extensive research on the topic, focusing on the identification and evaluation of the phytochemical properties of common medicinal plants. Meta-analysis has also been implemented on the results of published literature. Forest plots have been plotted, comparing and evaluating the results’ validity and significance. The meta-analysis results have undoubtedly demonstrated the importance and significance of the medicinal plants and their properties against various clinical complications, focusing on the pathogenicity of SCD. Surprisingly, their effectiveness to suppress haemoglobin polymerisation and increase the Fe<sup>2+</sup>/Fe<sup>3+</sup> ratio in patients, enhanced the normal morphological erythrocytes’ appearance by suppressing the sickle shape of drepanocytes. Research made on the epidemiology of SCD associates the disease with the geographical frequency of malaria infection. Based on the natural selection theory of Charles Darwin, nature aids in the population’s survival by the endemicity of various medicinal plants in areas with increased SCD patients. Limitations to the medicinal plants’ consumptions and further therapeutic options have been discussed.展开更多
Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the synthesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (βT) ...Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the synthesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (βT) and variant haemoglobins. In India, they are responsible for the largest number of genetic disorders and hence are of great public health hazardous. In India major concerned haemoglobinopathic disorders are sickle cell anaemia and β-thalassaemia. Of the several abnormal haemoglobin molecules, four which are widely prevalent in India include: HbS, HbβT, HbE and HbD. Examination of 6463 individuals showed high incidences for haemoglobin variants, HbS and HbβT in different ethnic groups, the frequency being varies from 0% - 20% and 0% - 9% respectively. The frequency of HbS in Brahmins is 4.17%, in Kalar 5.41%, in Rajput 2.04%, in Muslims 3.73% in Maratha 2.08% in Bania 9.09% while in Teli it is 3.65%. Among the Scheduled castes and Nomadic tribal groups HbS ranges from 1% - 12%;in backward caste categories it varies from 3% - 16%;while in Scheduled tribes it ranges from 0% - 20%. The high magnitude of sickle cell trait has been noticed in the Pardhan (20.31%) followed by the Marar (16.10%), the Dhiwar (11.90%), the Gond (11.89%), the Mahar (11.81%) and the Bania (9.90%). A considerable high frequency (9.27%) of β-thalassaemia has been observed among the Sindhi population. Sporadic occurrence of HbβT and HbD among other communities suggested the gradual spread of the genes into the region. The present findings in 11 communities with the thalassaemia syndrome suggest that the β-thalassaemia is accompanied by raised level of HbA2. Unusual greater mean RBC and WBC suggest the high concentration of hypochromic microcytosis in anaemia. The mean MCV and MCH in HbβT and HbD are much lower than the normal ranges compared to HbS. The mean MCHC is much lower in HbβT, HbDD and HbS than the normal range. The cumulative gene frequency of haemoglobinopathies in India is 4.2%. With a population of over 1 billion and a birth rate of 28 per 1000, there are over 42 million carriers and over 12,000 infants are born each year with a major and clinical significant haemoglobinopathy. Out of these, clinically significant sickle cell anaemia and β-thalassaemic disorders account for almost equal numbers.展开更多
文摘AIM: To establish a link between the risk of diabetes with haemoglobinopathies by examining available evidence of the effects of iron and blood glucose homeostasis from molecular to epidemiological perspectives.METHODS: A systematic literature search was performed using electronic literature databases using various search terms. The International Diabetes Federation World Atlas was used to generate a list of populations with high rates of diabetes. Pub Med, Scopus and Google Scholar were used to identify which of these populations also had a reported prevalence of haemoglobin abnormalities.RESULTS: Abnormalities in iron homeostasis leads to increases in reactive oxygen species in the blood. This promotes oxidative stress which contributes to peripheral resistance to insulin in two ways:(1) reduced insulin/insulin receptor interaction; and(2) β-cell dysfunction. Hepcidin is crucial in terms of maintaining appropriate amounts of iron in the body and is in turn affected by haemoglobinopathies. Hepcidin also has other metabolic effects in places such as the liver but so far the extent of these is not well understood. It does however directly control the levels of serum ferritin. High serum ferritin is found in obese patients and those with diabetes and a meta-analysis of the various studies shows that high serum ferritin does indeed increase diabetes risk.CONCLUSION: From an epidemiological standpoint, it is plausible that the well-documented protective effects of haemoglobinopathies with regard to malaria may have also offered other evolutionary advantages. By contributing to peripheral insulin resistance, haemoglobinopathies may have helped to sculpt the so-called "thrifty genotype", which hypothetically is advantageous in times of famine. The prevalence data however is not extensive enough to provide concrete associations between diabetes and haemoglobinopathies- more precise studies are required.
基金This work was supported by the National Natural Science Foundation of China(grant number 81370261)the Committee of Health and Family Planning in Sichuan Province(grant number 17PJ521).
文摘The incidence of haemoglobinopathy is high in China,especially south of the Yangtze River.However,the exact status of haemoglobinopathy in Sichuan is unknown.To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan,13,298 subjects without clinical symptoms who were living in Sichuan Province,with an age distribution of 5e73 years,were included in this study.Between March 2014 and July 2017,these subjects received examinations at the Medical Lab of Chengdu Women’s&Children’s Central Hospital.Mean corpuscular volume(MCV)<82 fL or mean corpuscular haemoglobin(MCH)<27 pg was used to indicate haemoglobinopathy carriers.Abnormal haemoglobin was screened by electrophoresis,and genes were sequenced to identify genotypes.Genotype diagnosis of alpha-and beta-thalassaemia was carried out by using PCR and shunt hybridization.There were 638 suspected haemoglobinopathy carriers(4.80%,638/13,298).DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E.The frequency of heterozygosity for thalassaemia was 4.12%(1.48%for α-thalassaemia and 2.61%for β-thalassaemia)in Sichuan Province.The mutation spectrum of α-thalassaemia consisted of the five most common mutations:–^(SEA),-α^(3.7),-α^(4.2),α^(CS),and α^(QS).Seven types of β-thalassaemia mutation were found in this study:CD41-42(-TTCT)was the most frequent(28.47%),followed by 17(A>T),28(A>G),and IVS-Ⅱ-654(C>T).The main abnormal haemoglobin genotype(HbE)and thalassaemia genotype(–^(SEA),CD41-42(-TTCT))were consistent with those in other regions of China,but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.
文摘SCD is one of the most prevailing homogeneous inherited haemoglobinopathies causing a plethora of various clinical complications to the patients. The high mortality and morbidity severely concern the Western community, where numerous clinical trials and research for a cure are in process. In order to alleviate patients from the severe symptoms of the disease, avoiding the side effects, Botanical Medicine exhibits concrete evidence, as a gold candidate, to be the salvation to the problem. The Preferred Reporting Items for Systematic Review (PRISMA) protocol has been used to achieve extensive research on the topic, focusing on the identification and evaluation of the phytochemical properties of common medicinal plants. Meta-analysis has also been implemented on the results of published literature. Forest plots have been plotted, comparing and evaluating the results’ validity and significance. The meta-analysis results have undoubtedly demonstrated the importance and significance of the medicinal plants and their properties against various clinical complications, focusing on the pathogenicity of SCD. Surprisingly, their effectiveness to suppress haemoglobin polymerisation and increase the Fe<sup>2+</sup>/Fe<sup>3+</sup> ratio in patients, enhanced the normal morphological erythrocytes’ appearance by suppressing the sickle shape of drepanocytes. Research made on the epidemiology of SCD associates the disease with the geographical frequency of malaria infection. Based on the natural selection theory of Charles Darwin, nature aids in the population’s survival by the endemicity of various medicinal plants in areas with increased SCD patients. Limitations to the medicinal plants’ consumptions and further therapeutic options have been discussed.
文摘Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the synthesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (βT) and variant haemoglobins. In India, they are responsible for the largest number of genetic disorders and hence are of great public health hazardous. In India major concerned haemoglobinopathic disorders are sickle cell anaemia and β-thalassaemia. Of the several abnormal haemoglobin molecules, four which are widely prevalent in India include: HbS, HbβT, HbE and HbD. Examination of 6463 individuals showed high incidences for haemoglobin variants, HbS and HbβT in different ethnic groups, the frequency being varies from 0% - 20% and 0% - 9% respectively. The frequency of HbS in Brahmins is 4.17%, in Kalar 5.41%, in Rajput 2.04%, in Muslims 3.73% in Maratha 2.08% in Bania 9.09% while in Teli it is 3.65%. Among the Scheduled castes and Nomadic tribal groups HbS ranges from 1% - 12%;in backward caste categories it varies from 3% - 16%;while in Scheduled tribes it ranges from 0% - 20%. The high magnitude of sickle cell trait has been noticed in the Pardhan (20.31%) followed by the Marar (16.10%), the Dhiwar (11.90%), the Gond (11.89%), the Mahar (11.81%) and the Bania (9.90%). A considerable high frequency (9.27%) of β-thalassaemia has been observed among the Sindhi population. Sporadic occurrence of HbβT and HbD among other communities suggested the gradual spread of the genes into the region. The present findings in 11 communities with the thalassaemia syndrome suggest that the β-thalassaemia is accompanied by raised level of HbA2. Unusual greater mean RBC and WBC suggest the high concentration of hypochromic microcytosis in anaemia. The mean MCV and MCH in HbβT and HbD are much lower than the normal ranges compared to HbS. The mean MCHC is much lower in HbβT, HbDD and HbS than the normal range. The cumulative gene frequency of haemoglobinopathies in India is 4.2%. With a population of over 1 billion and a birth rate of 28 per 1000, there are over 42 million carriers and over 12,000 infants are born each year with a major and clinical significant haemoglobinopathy. Out of these, clinically significant sickle cell anaemia and β-thalassaemic disorders account for almost equal numbers.
