一种导致α（+）-地中海贫血的α2-珠蛋白新突变：血红蛋白普拉森西亚[α125（H8）亮氨酸-精氨酸（α2）]

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).

作者信息

Martin Guillermo, Villegas Ana, González Fernando Ataulfo, Ropero Paloma, Hojas Ricardo, Polo Marta, Mateo Marta, Salvador Maria, Benavente Celina

机构信息

Servicio de Hematología y Hemoterapia del Hospital Virgen del Puerto, Plasencia, Spain.

出版信息

Hemoglobin. 2005;29(2):113-7.

PMID:15921163

Abstract

We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG --> CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional alpha-thal, was named Hb Plasencia [alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family.

摘要

在一个患有中度小红细胞症和低色素血症的西班牙家庭中，我们发现了一种位于α2-珠蛋白基因上的新型非缺失型α地中海贫血（地贫）突变。DNA测序显示，杂合状态下第125密码子处存在一个点突变（CTG --> CGG），该突变经限制性分析得以证实。由此产生的导致非缺失型α地贫的变体，根据患病家庭的居住地被命名为Hb Plasencia [α125(H8)Leu --> Arg (α2)]。