Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening fr...Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.展开更多
Worldwide, the incidence of birth defects in low-income countries is 6.42%, while in middle-income and high-income countries it is 5.57% and 4.72%, respectively;approximately 303, 000 newborns die from birth defects e...Worldwide, the incidence of birth defects in low-income countries is 6.42%, while in middle-income and high-income countries it is 5.57% and 4.72%, respectively;approximately 303, 000 newborns die from birth defects each year. In China, the incidence of birth defects is about 5.6%, and around 8.14 million people have congenital disabilities, accounting for 9.6% of total disabled people[1]. Birth defect remains a major clinical and public health challenge because of its high fatality rate and protracted and severe sequela.展开更多
Left-behind children comprise a special population inChinese rural areas. According to the 2007 China Census,the number ofleft-behind children aged≤14 years was estimated at 58 million which suggested that these chil...Left-behind children comprise a special population inChinese rural areas. According to the 2007 China Census,the number ofleft-behind children aged≤14 years was estimated at 58 million which suggested that these childrencon stituted a展开更多
基金supported by the National Key Research and Development Program of China[2021YFC1005300]the science and technology innovation Program of Hunan Province—Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province[2019SK1010 and 2019SK1011]Hunan Province Clinical Medical Technology Innovation Guidance Project"Screening,prevention and control of single gene disease carriers and panel research in childbearing age people in Hunan Province"[2021SK50602].
文摘Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
基金supported by the National Natural Science Foundation of China [No.81172680]
文摘Worldwide, the incidence of birth defects in low-income countries is 6.42%, while in middle-income and high-income countries it is 5.57% and 4.72%, respectively;approximately 303, 000 newborns die from birth defects each year. In China, the incidence of birth defects is about 5.6%, and around 8.14 million people have congenital disabilities, accounting for 9.6% of total disabled people[1]. Birth defect remains a major clinical and public health challenge because of its high fatality rate and protracted and severe sequela.
基金supported by grants from the National Natural Science Foundation of China [81172680]
文摘Left-behind children comprise a special population inChinese rural areas. According to the 2007 China Census,the number ofleft-behind children aged≤14 years was estimated at 58 million which suggested that these childrencon stituted a
