α与β地中海贫血双重杂合子基因诊断

目的：探讨α与β地中海贫血双重杂合子的基因诊断。方法：采用聚合酶链反应（ＰＣＲ）和β地中海贫血等位特异寡核苷酸探针／反向点杂交（ＡＳＯ／ＲＤＢ）技术，对在遗传咨询和地中海贫血产前诊断病例中发现的６例疑为α与β地中海贫血双重杂合子个体，分别进行了α地中海贫血基因和β地中海贫血基因分析。结果：该６个病例均属东南亚缺失型α地中海贫血１和β地中海贫血双重杂合子（－－ＳＥＡ／αα，βＴ／βＡ），其中３例为α地中海贫血１和β４１４２（－ＴＣＴＴ），２例为α地中海贫血１和β－２８（Ａ→Ｔ）和１例α地中海贫血１与βＩＶＳⅡ６５４（Ｃ→Ｔ）双重杂合子。结论：α与β地中海贫血双重杂合子的检出对临床准确开展产前诊断有重要意义

Genetic diagnosis of alpha and beta thalassemia dual heterozygote]

OBJECTIVE: To perform genetic diagnosis of alpha and beta thalassemia dual heterozygotes. METHODS: PCR and beta-thalassemia allele specific oligonucleotide probe/reverse dot blot(ASO/RDB) techniques were used. RESULTS: Six cases of suspected alpha-thalassemia-1 and beta-thalassemia dual heterozygotes were found in genetic counseling and prenatal diagnosis. On genetic diagnosis, they were all Southeast Asia(SEA) type of alpha-thalassemia-1 and beta-thalassemia (--SEA/alpha alpha, beta T/beta A) dual heterozygotes. Out of them, 3 cases were alpha-thalassemia-1 and beta 41-42 (-TCTT), 2 were alpha-thalassemia-1 and beta-28(A-->T) and 1 was alpha-thalassemia-1 and beta IVS-II-654(C-->T) double heterozygotes. CONCLUSION: The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.