江西一例β地中海贫血纯合子合并G6PD缺乏纯合子的分析  

A homozygote for β-thalassemia combined with glucose-6-phosphate dehydrogenase deficiency in Jiangxi

作　　者：林芬[1] 吴教仁[1] 童欣[1] 林敏[1] 杨立业[1] 

机构地区：[1]南方医科大学附属潮州中心医院检验实验中心,广东潮州521021

出　　处：《中国优生与遗传杂志》2013年第7期27-28,共2页Chinese Journal of Birth Health & Heredity

基　　金：国家自然基金项目(81101329);广东省社会发展计划(2011B031800329);广东省医学科研基金(A2011758;B2010348)

摘　　要：目的对江西赣州一例罕见重度β地中海贫血(简称地贫)合并G6PD缺乏症患儿及其父母作实验室鉴定及临床分析。方法抽取患儿及其父母的血标本进行常规血液学检查,采用跨越断裂点多聚酶链反应(GAP-PCR)和反向斑点杂交(RDB)鉴定地中海贫血基因类型,以高分辨率熔解曲线(HRM)技术检测G6PD基因突变类型并进行测序验证。结果患儿为654M/654Mβ地贫纯合子合并G1388A突变型G6PD纯合子,父母双方均为654M轻型β地贫合并G1388A突变型G6PD缺乏。结论地中海贫血合并G6PD缺乏可以加重患者临床症状,江西属于地贫和G6PD发病率较高的省份,进行婚检、产前筛查和对患儿进行早期诊断意义重大。Objective： To report the result of laboratory evaluation and clinical analysis of a rare case with the co-inheritance of major β – thalassemia and glucoe-6-phosphate dehydrogenase（G6PD） deficiency.Methods： Blood sample was collected for blood routine examination,including thalassemia and G6PD deficiency screening.Gap-PCR and the reverse dot blot（RDB） were used to detect known point mutations causing α-or β-thalassaemia in Chinese people.Genotyping of this case with G6PD deficiency were screened by HRM assay and ascertained by direct DNA sequencing.Results： This patient was homozygotes for 654 mutation and G6PD Kaiping（G1388A） gene mutation.Pedigree analysis showed that both her parents were 654 mutation carriers.And her mother was a homozygotes for 1388 mutation and father was a hemizygote for 1388 mutation.Conclusion： Patient with the co-inheritance of thalassemia and glucoe-6-phosphate dehydrogenase（G6PD） deficiency could aggravate the clinical symptoms.Jiangxi is the high-risk regions of both thalassemia and G6PD deficiency.It＇s of signality to develop an effective prevention program by genetic screening and genetic counseling.

关 键 词：β地中海贫血纯合子 G6PD缺乏纯合子 基因突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]