对一名α地中海贫血-2、血红蛋白S和血红蛋白G费城的杂合子进行的珠蛋白合成研究。

Globin synthesis studies in a person heterozygous for alpha-thalassemia-2, Hb S and Hb G Philadelphia.

作者信息

Ballas S K, Walker B K, Atwater J

出版信息

Clin Chim Acta. 1980 Jan 1;100(1):1-6. doi: 10.1016/0009-8981(80)90178-3.

Abstract

A 21-year-old American black female with mild anemia was found to be triply heterozygous for alpha-thalassemia-2, hemoglobin S and hemoglobin G Philadelphia. Hemoglobin A comprised 39% of her total hemoglobin. The alpha-thalassemia gene was expressed by an alpha/non-alpha synthesis of ratio of 0.79 +/- 0.09 and was equally unbalanced in the peripheral blood and the bone marrow. Globin synthesis studies indicated that the percentage of Hb G and Hb S in the peripheral blood is about 32% and 31% respectively. These values are due to the coexistent alpha-thalassemia-2 gene with the following most likely genotype: --alpha G/alpha alpha, beta A/beta S (or --alpha/alpha G alpha, beta A beta S).

摘要

一名患有轻度贫血的21岁美国黑人女性被发现为α地中海贫血-2、血红蛋白S和血红蛋白G费城的三重杂合子。血红蛋白A占其总血红蛋白的39%。α地中海贫血基因通过α/非α合成比例为0.79±0.09来表达，并且在外周血和骨髓中同样不平衡。珠蛋白合成研究表明，外周血中Hb G和Hb S的百分比分别约为32%和31%。这些值归因于共存的α地中海贫血-2基因，其最可能的基因型为：--αG/αα，βA/βS（或--α/αGα，βAβS）。