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两个南斯拉夫家庭中的δ型β地中海贫血

Delta Beta-Thalassaemia in two yugoslavian families.

作者信息

Efremov G D, Nikolov N, Duma H, Schroeder W A, Miller A, Huisman T H

出版信息

Scand J Haematol. 1975 May;14(3):226-32.

PMID:1145125
Abstract

Members of two Yugoslavian families were found to have delta-beta-thalassaemia. Interaction of beta-thalassaemia with delta-beta-thalassaemia occured in two young children producing a clinical condition which is somewhat less severe than that of homozygous beta-thalassaemia. Results from biosynthetic analyses indicate that the degree of globin chain imbalance in double heterozygotes for beta- and delta-beta-thalassaemia is similar to that in homozygous beta-thalassaemia. Fetal haemoglobin of all heterozygotes contained G-gamma and A-gamma chains in an average ratio of about 2:3 whereas that in the two double heterozygotes had G-gamma and A-gamma chains in a ratio of 3:2.

摘要

发现两个南斯拉夫家庭的成员患有δ-β地中海贫血。β地中海贫血与δ-β地中海贫血在两名幼儿中相互作用,产生了一种临床症状,其严重程度略低于纯合子β地中海贫血。生物合成分析结果表明,β-和δ-β地中海贫血双重杂合子中珠蛋白链失衡的程度与纯合子β地中海贫血相似。所有杂合子的胎儿血红蛋白中G-γ链和A-γ链的平均比例约为2:3,而两名双重杂合子的胎儿血红蛋白中G-γ链和A-γ链的比例为3:2。

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