Acquaye J, Ganeshaguru K, Sejeny S, Selchouk S, Hassounah F, Samuel A, Omer A
Trop Geogr Med. 1985 Dec;37(4):319-27.
In Saudi Arabia there are three alpha globin chain alleles alpha alpha/, -alpha/, alpha alpha T/-producing six genotypes. In this study of 12 alpha thalassaemia families, the phenotypic expression of these six genotypes is determined. Globin chain biosynthesis gave five non overlapping ratios of 0.9 +/- 0.05, 0.69 +/- 0.06, 0.5 +/- 0.03, 0.38 +/- 0.04 and 0.23 +/- 0.06. The five groups are shown to be normal, alpha thal 2 trait with genotype -alpha/ alpha alpha, mild alpha thal 1 with -alpha/-alpha and alpha alpha/alpha alpha T as genotypes, severe alpha thal 1 with genotype -alpha/alpha alpha T and Hb H disease. The red cell indices MCV, MCH and MCHC of the groups show a step ladder fall. Hb H inclusions in red cells are slight in the mild alpha thal 1 and rises to gross in Hb H disease. The latter disease also shares typical red blood cell appearances with severe alpha thal 1. Hb H disease is relatively mild with no gross bony changes.
在沙特阿拉伯，有三种α珠蛋白链等位基因αα/、-α/、ααT/-，可产生六种基因型。在这项对12个α地中海贫血家庭的研究中，确定了这六种基因型的表型表达。珠蛋白链生物合成产生了五个不重叠的比例，分别为0.9±0.05、0.69±0.06、0.5±0.03、0.38±0.04和0.23±0.06。这五组分别显示为正常、基因型为-α/αα的α地中海贫血2特征、基因型为-α/-α和αα/ααT的轻度α地中海贫血1、基因型为-α/ααT的重度α地中海贫血1和血红蛋白H病。这些组的红细胞指数MCV、MCH和MCHC呈阶梯状下降。轻度α地中海贫血1中红细胞内的血红蛋白H包涵体较少，而在血红蛋白H病中则增加到明显可见。后一种疾病也与重度α地中海贫血1有典型的红细胞外观。血红蛋白H病相对较轻，没有明显的骨骼变化。
