β—球蛋白生成障碍性贫血基因分析

ANALYSIS OF β-THALASSEMIA GENES

本文分析了宜昌地区3个家系8例β—珠蛋白基因突变类型,发现以IVS—2—654(C→T)占多数6/8,次为41—42(-4bp)2/8。3例先证者分别为41—42(-46p)/IVS—2—654(C→T)双重杂合子;IVS—2—654(C→T)纯合子;IVS—2—654(C→T)杂合子。 β—珠蛋白生成障碍性贫血治疗困难,脾切除对于双重杂合子及纯合子患者疗效差于杂合子患者,目前进行产前诊断能达优生目的。

8 patients from 3 families with β-thalasemia in Yichang district were analysed. Several different types of β-globin genete was discovered. The results was shown that the C→T substitution at 654 in the acceptor splice site of the IVS-Ⅱ was most common 6/8, and the second was 41-42 frameshift 2/8. The first proband was duble heterozygote β-globin genete, mutations at codons 41-42 and IVS-2 nt 654 2/8. The second proband was homozygote at codons IVS-2 nt 654. The third proband was heterozygote at codons IVS-2 nt 654. The treatment of β-thal was difficult. The spelenectomy treatment effection to the patients with duble heterozygous and homozygous was less than that to heterozygous.