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不同类型的中间型β地中海贫血。20例患者的基因研究。

Different types of beta-thalassemia intermedia. A genetic study in 20 patients.

作者信息

Aksoy M, Dinçol G, Erdem S

出版信息

Acta Haematol. 1978;59(3):178-89. doi: 10.1159/000207760.

Abstract

20 patients with beta-thalassemia intermedia classified according to the results of genetic studies are presented. (1) 9 patients with beta-thalassemia intermedia homozygous for beta-thalassemia with increased Hb-A2 are reported. (2) 8 patients with beta-thalassemia intermedia, 3 homozygous for beta-thalassemia with normal levels of Hbs.A2 and F, 5 heterozygous for both this and beta-thalassemia with increased Hb-A2 are presented. (3) 2 families with beta-thalassemia intermedia heterozygous for both beta-thalassemia with increased HbA2 and 'silent" beta-thalassemia are reported. Two different varieties are presented.

摘要

本文报告了根据基因研究结果分类的20例中间型β地中海贫血患者。(1)报告了9例中间型β地中海贫血纯合子患者,其β地中海贫血伴Hb-A2升高。(2)介绍了8例中间型β地中海贫血患者,其中3例β地中海贫血纯合子患者HbA2和F水平正常,5例该型与β地中海贫血杂合子患者Hb-A2升高。(3)报告了2个家庭,其成员为HbA2升高的β地中海贫血与“静止型”β地中海贫血的双重杂合子中间型β地中海贫血。呈现了两种不同的类型。

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