在中国壮族家系中发现的一例-α~T/-α~Q复合β~0β~0珠蛋白基因型

本文报道在我国广西隆林壮族中发现一个罕見的HbQ复合α,β地中海贫血家系。先证者女,18岁,贫血面容,肝脾肿大。化学结构分析确证本Hb变异体为HbQ Thailandα74(EF3)Asp→His]。血红蛋白组成以及α和β珠蛋白基因分析结果表明,先证者的珠蛋白基因型为-α~Q/-α~T复合β°/β°(IVSI-1G→T/Codon17A→T);先证者父的基因型为-‘α~Q/-复合β~O/β~A(IVSI-1G→T/β~A);先证母的基因型为-α~T/αα复合β~O/β~A(Codon17A→T/β~A)。

A Case of -α~T/-α~Q in Combination With β~0/β~0 Found in A Family of Zhuang Nationality, China

In this paper, a rare case of HbQ in combination with α- and β- thalassemia found in a family of Zhuang nationality, Guangxi province, China, was described. The propositus was a 18 year-old female with severe amenia (Hb: 5.50g/ dL), Structural studies, by HPLC showed that the Hb variant was Hb Q Thailandα74 (EF3) Asp→His]. The results of Hb composition and α-, β-globin gene analysis demostrated that the genotype of the propositus was -a~T,/-α~Q in combination with β~0/ β~0 (IVSI-1G→T/Codon17A→T); the propositus's father, -α~Q/-- in combination β~0/ β~A(IVSI-1G→T/β~A); the propositus's mother, -α~T/αα in combination. β~0/β~A(Codon 17A→T/β~A).