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血红蛋白拉斯帕尔马斯或α2β2(49)(CD8)丝氨酸----苯丙氨酸,一种轻度不稳定的血红蛋白变体。

Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.

作者信息

Malcorra-Azpiazu J J, Balda-Aguirre M I, Diaz-Chico J C, Hu H, Wilson J B, Webber B B, Kutlar F, Kutlar A, Huisman T H

机构信息

Departamento de Hematologia-Hemoterapia Hospital Materno-Infantil, Insalud, Canary Islands, Spain.

出版信息

Hemoglobin. 1988;12(2):163-70. doi: 10.3109/03630268808998022.

Abstract

A new hemoglobin variant with a Ser----Phe substitution at position beta 49(CD8) was discovered in two members of a family living in the Canary Islands, Spain. Detection was by polyacrylamide gel electrophoresis and by reversed phase high performance liquid chromatography. The variant, which constituted 43% and 45%, respectively, in the two heterozygotes, was slightly unstable. Its presence did not affect hematological values though there was a mild reticulocytosis.

摘要

在西班牙加那利群岛的一个家族的两名成员中发现了一种新的血红蛋白变异体,其β49(CD8)位存在丝氨酸到苯丙氨酸的替换。通过聚丙烯酰胺凝胶电泳和反相高效液相色谱法进行检测。该变异体在两名杂合子中分别占43%和45%,略显不稳定。尽管存在轻度网织红细胞增多症,但其存在并未影响血液学指标。

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