血红蛋白K伍尔维奇：对一名纯合子家族的研究。
Haemoglobin K Woolwich: a study of the family of a homozygote.
作者信息
Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R, Lehmann H
出版信息
J Med Genet. 1980 Jun;17(3):183-6. doi: 10.1136/jmg.17.3.183.
Abstract
A family is described in which the proband is homozygous and several relatives are heterozygous for Hb K Woolwich (beta 130 [H10] Lys leads to Gln). These people are clinically and haematologically normal. The relationship between the presence of Hb K Woolwich and beta +-thalassaemia is discussed. The distribution of Hb K Woolwich in West Africa is discussed and it is seen to be closely associated with the Akan group.
摘要
本文描述了一个家系，其中先证者为Hb K伍尔维奇纯合子，数名亲属为杂合子（β130[H10]赖氨酸突变为谷氨酰胺）。这些人在临床和血液学上均正常。文中讨论了Hb K伍尔维奇的存在与β+-地中海贫血之间的关系。还讨论了Hb K伍尔维奇在西非的分布情况，发现它与阿坎族群密切相关。
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