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一个患有东南亚型α地中海贫血-1且存在γ珠蛋白基因三倍体的印度尼西亚家庭。

An Indonesian family with the Southeast Asian type of alpha-thalassemia-1 and a gamma-globin gene triplication.

作者信息

Daenen S, Reese A L, Kutlar F, Huisman T H

机构信息

Department of Medicine, University of Groningen, The Netherlands.

出版信息

Acta Haematol. 1987;78(1):23-7. doi: 10.1159/000205830.

Abstract

Detailed hematological and fetal hemoglobin data as well as results from gene mapping analyses are reported for nine members of an Indonesian-Dutch family. An alpha-thalassemia-1 heterozygosity (Southeast Asian type) was present in five subjects and a gamma-globin gene triplication of the type-G gamma-G gamma-A gamma in three; the propositus and one of her daughters had both conditions. Comparison of gene mapping data with quantitative results of the fetal hemoglobin analyses provided an explanation for the slight increases in fetal hemoglobin levels and for the extremely high G gamma levels of this fetal hemoglobin.

摘要

报告了一个印尼-荷兰家庭九名成员的详细血液学和胎儿血红蛋白数据以及基因定位分析结果。五名受试者存在α地中海贫血-1杂合子(东南亚型),三名受试者存在Gγ-Gγ-Aγ型γ珠蛋白基因三倍体;先证者及其一个女儿同时患有这两种疾病。将基因定位数据与胎儿血红蛋白分析的定量结果进行比较,解释了胎儿血红蛋白水平的轻微升高以及该胎儿血红蛋白极高的Gγ水平。

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