国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 172-174.

• 论著 • 上一篇    下一篇

3种少见α地中海贫血点突变杂合子与双重杂合子的临床特征


许涓涓，丘小霞，杜娟，李萌，黄萍丽，李娇   

  1. 530003 南宁，广西壮族自治区妇幼保健院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 丘小霞

Clinical Characteristics of Heterozygote and Double Heterozygote of Three Rare Mutations in alpha-Thalassemia

XU Juan-juan，QIU Xiao-xia，DU Juan，LI Meng，HUANG Ping-li，LI Jiao   

  1. Guangxi Maternal and Child Health Hospital，Nanning 530003，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: QIU Xiao-xia

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摘要： 目的：了解3种少见α地中海贫血点突变[血红蛋白Constants Spring（Hb CS），血红蛋白Westmead（Hb WS）和血红蛋白Quong Sze（Hb QS）]杂合子与双重杂合子的临床特征。方法：收集135例上述3种α-地中海贫血点突变的杂合子与双重杂合子患者和正常对照男女各20例，进行血常规参数分析、血红蛋白分析、等位基因特异性寡核苷酸探针反向斑点杂交方法（RDB）和多重跨越断裂点聚合酶链反应（PCR）方法检测基因型。结果：杂合子组、Hb CS和Hb WS双重杂合子（αCSα/αWSα）组均无临床表现，但Hb QS杂合子（αQSα/αα）组的红细胞平均体积（MCV）和红细胞平均血红蛋白（MCH）值小于其余杂合子组（P＜0.05）。Hb CS和Hb QS双重杂合子（αCSα/αQSα）组有轻微的临床表现，MCV和MCH值低于Hb CS杂合子和Hb WS杂合子组（P＜0.05）。结论：Hb CS杂合子组和Hb WS杂合子组表现为静止型地中海贫血，Hb QS杂合子组更接近轻型地中海贫血。双重杂合子表型多样，Hb CS和Hb WS双重杂合子表现接近于静止型地中海贫血，而Hb CS和Hb QS双重杂合子表现类似中间型α地中海贫血（Hb H病），在遗传咨询中需注意。

关键词: α地中海贫血, 点突变, 基因型, 杂合子

Abstract: Objective：To examine clinical characteristics of heterozygote and double heterozygote of three rare mutations [Hb Constants Spring（Hb CS），Hb Westmead（Hb WS） and Hb Quong Sze（Hb QS）] among alpha-thalassemia patients in Guangxi province, China. Methods：135 alpha-thalassemia patients, and 40 controls, were included in this study. Routine examination of blood and hemoglobin electrophoresis were performed. The alpha-thalassemia mutations were detected using Gap-PCR and reverse dot-blotting. Results：There were no clinical symptoms in three heterozygote groups and the double heterozygote group of αCSα/αWSα. MCV and MCH in the heterozygote group of Hb QS were significantly lower than those in other heterozygote groups（Hb CS and Hb WS）（P＜0.05）. However，there was mild clinical symptoms in the double heterozygote group of αCSα/αQSα, while MCV and MCH were also significantly lower than those in other heterozygote groups（Hb CS and Hb WS）（P＜0.05）. Conclusions： The heterozygote Hb CS，heterozygote Hb WS and double heterozygote αCSα/αWSα are the silent carrier in clinical manifestations, the heterozygote Hb QS is the thalassemia trait, and the double heterozygote αCSα/αQSα is similar to the HbH disease. It is important to note this variability of clinical manifestations of those double heterozygotes in genetic consultation.

Key words: Alpha-Thalassemia, Point mutation, Genotype, Heterozygote