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黑人α地中海贫血：纯合子镰状细胞病的遗传学研究

Negro alpha-thalassaemia: genetic studies in homozygous sickle cell disease.

作者信息

Serjeant G R, Mason K P, Serjeant B E

出版信息

J Med Genet. 1980 Aug;17(4):281-4. doi: 10.1136/jmg.17.4.281.

DOI:10.1136/jmg.17.4.281
PMID:7205903
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048570/
Abstract

Interaction with the alpha-thalassaemia phenotypes lowers the proportion of Hb S in the sickle cell trait and influences the mean cell volume and proportional Hb A2 in homozygous sickle cell (SS) disease. By assigning somewhat arbitrary values to the alpha-thalassaemia 1 and alpha-thalassaemia 2 phenotypes in these conditions, it has been possible to investigate the patterns of inheritance of alpha-thalassaemia in black populations. The results strongly support the hypothesis that the alpha-thalassaemia 1 phenotype represents homozygosity for alpha-thalassaemia 2.

摘要

与α地中海贫血表型相互作用会降低镰状细胞性状中Hb S的比例，并影响纯合镰状细胞（SS）病的平均细胞体积和Hb A2比例。通过在这些情况下对α地中海贫血1和α地中海贫血2表型赋予一些任意值，得以研究黑人人群中α地中海贫血的遗传模式。结果有力地支持了α地中海贫血1表型代表α地中海贫血2纯合子的假说。

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本文引用的文献

1
Alpha thalassaemia in adults with sickle-cell trait.具有镰状细胞性状的成年人中的α地中海贫血
Br J Haematol. 1975 May;30(1):31-7. doi: 10.1111/j.1365-2141.1975.tb00514.x.
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The interaction of alpha thalassaemia with SS disease.
Prog Clin Biol Res. 1978;21:93-107.
3
Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene.
Lancet. 1979 Aug 11;2(8137):272-6. doi: 10.1016/s0140-6736(79)90290-3.

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