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血红蛋白模式正常的杂合β地中海贫血。4个家庭的血液学、血红蛋白及生物合成研究。

Heterozygous beta-thalassaemia with normal haemoglobin pattern. Haematologic, haemoglobin and biosynthesis study of 4 families.

作者信息

Silvestroni E, Bianco I, Graziani B, Carboni C

出版信息

Acta Haematol. 1978;59(6):332-40. doi: 10.1159/000207784.

Abstract

Thalassaemia with normal levels of Hb A2 and Hb F and with an alpha/beta ratio higher than 1 is described in 4 families. 3 of these families show direct or indirect signs of the presence of the delta-thalassaemia gene along with the beta-thalassaemia gene. The fourth family leaves the question as to whether there is a single mutation of the deltabeta tract or a beta + delta-thalassaemia in coupling unanswered. The necessity of knowing of the existence of this thalassaemia which conceals the presence of a beta-thalassaemia gene, is stressed, above all in view of the danger that mating between a carrier of this thalassaemia and a carrier of classical beta-thalassaemia could result in the birth of children with Cooley's disease.

摘要

在4个家族中描述了血红蛋白A2(Hb A2)和血红蛋白F(Hb F)水平正常且α/β比值高于1的地中海贫血。其中3个家族显示出δ-地中海贫血基因与β-地中海贫血基因同时存在的直接或间接迹象。第四个家族留下了一个未解答的问题,即是否存在δβ区域的单一突变或β+δ-地中海贫血的耦合。强调了了解这种隐藏β-地中海贫血基因存在的地中海贫血的必要性,尤其是考虑到这种地中海贫血携带者与经典β-地中海贫血携带者之间交配可能导致库利氏病患儿出生的风险。

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