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印度人群中沉默基因β地中海贫血的临床异质性

Clinical heterogeneity of silent-gene b-thalassemia among Indians.

作者信息

Nadkarni A, Pawar A, Mudera V C, Mohanty D, Colah R

机构信息

Institute of Immunohematology (ICMR), Kem Hospital Campus, Parel, Bombay, India.

出版信息

Ann Hematol. 1995 Jan;70(1):61-4. doi: 10.1007/BF01715386.

Abstract

This paper describes six Indian families in which silent-gene beta-thalassemia was encountered by us in the past 2 years. This stresses the importance of globin-chain synthesis in the diagnosis of beta-thalassemia. Of these six cases, five were diagnosed retrospectively when they had a homozygous beta-thalassemia offspring. The beta/alpha synthetic ratios ranged from 0.45 to 0.60. Four belong to group-I silent beta-thalassemia and two cases to group II. The severity of thalassemia major in the offspring of these silent carriers cannot be predicted.

摘要

本文描述了我们在过去两年中遇到的六个印度家庭,这些家庭中存在沉默基因β地中海贫血。这强调了珠蛋白链合成在β地中海贫血诊断中的重要性。在这六个病例中,有五个是在其有纯合子β地中海贫血后代时进行回顾性诊断的。β/α合成比在0.45至0.60之间。四个属于I组沉默β地中海贫血,两个病例属于II组。这些沉默携带者后代中重型地中海贫血的严重程度无法预测。

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