泰国缺失型α-地中海贫血1导致血红蛋白H病的产前诊断(1)
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[摘要] 目的 探讨泰国缺失型α-地中海贫血1(泰国缺失型)导致的血红蛋白H病(Hb H病)产前诊断方法。 方法 收集2010年6月～2011年12月间在广西妇幼保健院优生遗传门诊就诊的3对可能生育泰国缺失型Hb H病胎儿夫妇，采用先后检测常规6种常见α-地中海贫血(α-地贫)基因型和检测泰国缺失型的方法，对这3对高风险夫妇进行产前诊断。 结果 3对夫妇产前诊断胎儿均为 Hb H 病，1例是泰国缺失型复合右侧缺失型双重杂合子，基因型是(--THAI/-α3.7)；1例是泰国缺失型复合左侧缺失型双重杂合子，基因型是(--THAI/-α4.2)；1例是泰国缺失型复合Hb Westmead双重杂合子，基因型是(--THAI/αWSα)。 结论 综合分析常规检测和泰国缺失型检测结果，能有效的产前诊断泰国缺失型导致的Hb H病。
[关键词] 血红蛋白H病；泰国缺失型；产前诊断
[中图分类号] R556.61 [文献标识码] A [文章编号] 1673-7210(2012)08(c)-0059-03
Prenatal diagnosis of hemoglobin H disease caused by Thailand deletion of α-thalassemia 1
XU Juanjuan DU Juan▲ TANG Bin LI Meng TAN Shuyin HUANG Pingli
Maternity and Child Care Center of Guangxi Zhuang Autonomous Region Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China
[Abstract] Objective To explore the prenatal diagnosis method of hemoglobin H disease (Hb H disease) caused by Thailand deletion of α-thalassemia 1. Methods 3 couples who might have fetuses with Hb H disease caused by Thailand deletion of α-thalassemia 1 in eugenic and genetic outpatients clinic of Guangxi Zhuang Autonomous Region maternal and child care center from June 2010 to December 2011 were chosen. Genotypes of six kinds of common alpha-thalassemia (alpha-poor) and Thailand deletion of α-thalassemia 1 were detected. Then prenatal diagnoses were carried out for these three high-risk couples. Results Prenatal diagnosis of fetuses in the three couples were Hb H disease. One case was double heterozygous of Thailand deletion of α-thalassemia 1 and right side deletion, and its genotype was (--THAI/-α3.7). One case was double heterozygous of Thailand deletion of α-thalassemia 1 and left side deletion, and its genotype was (--THAI/-α4 ......
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