中间型地中海贫血：一种新的分子基础。

Thalassaemia intermedia: a new molecular basis.

作者信息

Thein S L, Al-Hakim I, Hoffbrand A V

出版信息

Br J Haematol. 1984 Feb;56(2):333-7. doi: 10.1111/j.1365-2141.1984.tb03960.x.

DOI:10.1111/j.1365-2141.1984.tb03960.x

Abstract

A 5-year-old child heterozygous for beta thalassaemia has the clinical picture of thalassaemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated alpha gene complex. The greater degree of globin chain imbalance resulting from two additional alpha chain genes is the likely mechanism for this unusually severe clinical phenotype.

摘要

一名5岁的β地中海贫血杂合子患儿具有中间型地中海贫血的临床表现。限制性内切酶图谱分析显示，该患儿的α基因复合体呈三倍体纯合状态。两条额外的α链基因导致的珠蛋白链失衡程度更高，这可能是造成这种异常严重临床表型的机制。