印度血红蛋白 H 病的分子多样性。

Molecular diversity of hemoglobin H disease in India.

机构信息

National Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India.

出版信息

Am J Clin Pathol. 2010 Mar;133(3):491-4. doi: 10.1309/AJCP70ORBRURVSJM.

PMID:20154289

Abstract

This study was undertaken to evaluate the variable clinical expression of hemoglobin (Hb) H disease in India. For the study, alpha genotyping was done in 8 patients with Hb H disease using multiplex polymerase chain reaction and DNA sequencing. The study revealed that 4 genotypes (- -(SEA)/ -alpha(3.7), - -(SA)/-alpha(3.7), - -(SEA)/-alpha(3.7 Sallanches), - -alpha(3.7)/-alpha(3.7 Sallanches)) were responsible for Hb H disease, the alpha+ thalassemia mutation (-alpha(3.7) deletion) being the most common defect. The nondeletional mutation Hb Sallanches (alpha 2 codon 104 G --> A) was seen in 3 cases. Two unique and novel genotypes leading to Hb H disease were characterized (- -(SEA)/-alpha(3.7 Sallanches) and -alpha(3.7)/-alpha(3.7 Sallanches)). Because a majority of patients with Hb H disease do not have severe manifestations, prenatal diagnosis is usually unwarranted in India.

摘要

本研究旨在评估印度血红蛋白 H 病的临床表型多变性。为此，对 8 例血红蛋白 H 病患者进行了多重聚合酶链反应和 DNA 测序的α基因分型。研究显示，4 种基因型（- -(SEA)/ -alpha(3.7)、- -(SA)/-alpha(3.7)、- -(SEA)/-alpha(3.7 Sallanches)、- -alpha(3.7)/-alpha(3.7 Sallanches)）导致了血红蛋白 H 病，其中最常见的缺陷是α+地中海贫血突变（-alpha(3.7)缺失）。3 例存在非缺失性突变血红蛋白 Sallanches（α2 密码子 104 G --> A）。还鉴定出了 2 种导致血红蛋白 H 病的独特新型基因型（- -(SEA)/-alpha(3.7 Sallanches)和 -alpha(3.7)/-alpha(3.7 Sallanches)）。由于大多数血红蛋白 H 病患者没有严重的临床表现，因此在印度通常不需要进行产前诊断。