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

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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/-α4.2). One case was double heterozygous of Thailand deletion of α-thalassemia 1 and Hb Westmead, and its genotype was (--THAI/αWSα). Conclusion Comprehensive analysis of test results of conventional detection and Thailand deletion of α-thalassemia 1 detection can make effective prenatal diagnosis for Hb H disease caused by Thailand deletion of α-thalassemia 1.

[Key words] Hb H disease; Thailand deletion; Prenatal diagnosis

在东南亚地区和中国南方，α-地中海贫血（α-地贫）是常见的遗传性溶血性贫血，致病机制主要是位于16号染色体上的α-珠蛋白基因的缺失或缺陷导致α-珠蛋白链合成减少或不能合成。一条16号染色体上正常存在2个α-基因，如果同时缺失称为缺失型α地贫1（或称α0地贫），最常见的类型是东南亚缺失型α地贫1（简称东南亚缺失型），而泰国缺失型α地贫1（简称泰国缺失型）罕见，两者的比例大约是99∶1。泰国缺失型缺失了包括ζ珠蛋白基因和2个α珠蛋白基因在内的33.5 kb的片段[1]，它的5'断裂端距ζ珠蛋白基因起始密码子上游约3 kb，3'断裂端距α1珠蛋白基因起始密码子下游约6.6 kb[2]。在国内，泰国缺失型既往在台湾、广东、广西及福建有散在发现[3-7]，它与其他α-地贫复合存在，在临床上可以形成中重型α-地贫，即泰国缺失型的血红蛋白H病（Hb H病）和泰国缺失型的巴氏水肿胎。Hb H病患者可出现轻、中度贫血、肝脾大、黄疸等轻重不一症状和体征，严重者需输血、脾切除，影响身心健康，目前该病根治方法为干细胞移植。因此，为了提高人口素质，降低出生缺陷，有生育Hb H病胎儿风险的夫妇需要进行产前诊断，阻断Hb H病胎儿出生。