血红蛋白D旁遮普型。与α地中海贫血的相互作用及基因定位诊断。

Haemoglobin D Punjab. Interaction with alpha thalassaemia and diagnosis by gene mapping.

作者信息

Trent R J, Harris M G, Fleming P J, Wyatt K, Hughes W G, Kronenberg H

出版信息

Scand J Haematol. 1984 Mar;32(3):275-82. doi: 10.1111/j.1600-0609.1984.tb01693.x.

DOI:10.1111/j.1600-0609.1984.tb01693.x

Abstract

A family which illustrates the inheritance of Hb D Punjab (a beta globin chain variant) and alpha thalassaemia is described. Interaction between Hb D Punjab and alpha thalassaemia is observed since levels of Hb D vary according to the number of alpha globin genes deleted. The technique of gene mapping has been utilised in the current study to provide definitive evidence of alpha thalassaemia and also demonstrates a novel way to identify Hb D Punjab.

摘要

本文描述了一个体现Hb D旁遮普型（一种β珠蛋白链变体）和α地中海贫血遗传情况的家族。由于Hb D的水平根据缺失的α珠蛋白基因数量而变化，因此观察到了Hb D旁遮普型与α地中海贫血之间的相互作用。在本研究中运用了基因定位技术，以提供α地中海贫血的确切证据，同时还展示了一种鉴定Hb D旁遮普型的新方法。