典型文献
Molecular spectrum of thalassemia in tropical Hainan Island of southern China:high allele frequency with low health burden
文献摘要：
Thalassemia is the most common monogenetic disorder preva-lent in tropical and subtropical regions.It is mainly classified into α-and β-thalassemia according to which globin chain is affected(Taher et al.,2018).Thalassemia mutations present significant ge-netic diversity,which causing absent(α0 and β0)or reduced(α+and β+)synthesis of globin chains.Consequently,homozygotes or compound heterozygotes of different thalassemia alleles can lead to various clinical phenotypes.Homozygotes of α0(-/-,Bart's hydrops fetalis)or β0(β0/β0,β-thalassemia major)were lethal pa-tients.The others of α+/α+,β+/β+,α0/α+,β+/β0 were asymptomatic or nonfatal,and α-/β-compound thalassemia was phenotype-alleviated(Lai et al.,2017;Musallam et al.,2021).Accordingly,the population health burden of thalassemia was mainly determined by the allele frequencies of α0 and β0 mutations.
文献关键词：
中图分类号：
作者姓名：
Yanquan Lai;Fangchao Tao;Yu Zou;Min Huang;Kaiting Lin;Yang Li;Weilun Huang;Wanjun Zhou
作者机构：
Department of Eugenics,Hainan Provincial Public Service Center of Prenatal and Postnatal Care,Haikou,Hainan 570203,China;Department of Medical Genetics,School of Basic Medical Sciences,Southern Medical University,Guangzhou,Guangdong 510515,China;Department of Clinical Laboratory,Hainan Provincial Public Service Center of Prenatal and Postnatal Care,Haikou,Hainan 570203,China;Danzhou Family Planning Service Center,Danzhou,Hainan 571799,China;Department of Laboratory Medicine,Nanfang Hospital,Southern Medical University,Guangzhou,Guangdong 510515,China
文献出处：
引用格式：
[1]Yanquan Lai;Fangchao Tao;Yu Zou;Min Huang;Kaiting Lin;Yang Li;Weilun Huang;Wanjun Zhou-.Molecular spectrum of thalassemia in tropical Hainan Island of southern China:high allele frequency with low health burden)[J].遗传学报,2022(12):1162-1164
A类：
Thalassemia,Taher,homozygotes,Homozygotes,fetalis,Musallam
B类：
Molecular,spectrum,thalassemia,Hainan,Island,southern,China,high,frequency,low,health,burden,most,common,monogenetic,disorder,preva,lent,subtropical,regions,It,mainly,classified,into,according,which,globin,affected,mutations,present,significant,diversity,causing,absent,reduced,+and,synthesis,chains,Consequently,compound,heterozygotes,different,alleles,lead,various,clinical,phenotypes,Bart,hydrops,major,were,lethal,pa,tients,others,asymptomatic,nonfatal,was,alleviated,Lai,Accordingly,population,determined,by,frequencies
AB值：
0.543228
相似文献
机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
