Johnson C S, Tegos C, Beutler E
Arch Intern Med. 1982 Jul;142(7):1280-2. doi: 10.1001/archinte.142.7.1280.
alpha-Thalassemia is common in southeast Asia and the Mediterranean, where the predominant lesion seems to be a deletion of one or more of the four gene loci responsible for alpha-globin chain production. In the United States, the prevalence of alpha-thalassemia in blacks was once thought to be low, but more recent studies show that the prevalence of alpha-thalassemia is high. We measured the globin chain synthetic rations in 144 black Americans to determine the prevalence and hematologic manifestations of alpha-thalassemia in this population. There were 120 subjects with a mean synthetic ration of 0.986 +/- 0.04, with a range of 0.90 to 1.06; these were classified as normal. Five subjects were found to have beta-thalassemia; 19 subjects had mild alpha-thalassemia. The overall gene frequency for alpha-thalassemia was estimated to be 0.07 in this population. The hemoglobin values of subjects with mild alpha-thalassemia were not statistically significantly different from normal black or white control subjects of the same sex, but there was a significant decrease in the mean corpuscular volume and in the mean corpuscular hemoglobin value.
α地中海贫血在东南亚和地中海地区很常见，在这些地区，主要病变似乎是负责α珠蛋白链产生的四个基因位点中的一个或多个发生缺失。在美国，黑人中α地中海贫血的患病率曾被认为较低，但最近的研究表明，α地中海贫血的患病率很高。我们测量了144名美国黑人的珠蛋白链合成比率，以确定该人群中α地中海贫血的患病率和血液学表现。有120名受试者，平均合成比率为0.986±0.04，范围为0.90至1.06；这些被归类为正常。发现5名受试者患有β地中海贫血；19名受试者患有轻度α地中海贫血。该人群中α地中海贫血的总体基因频率估计为0.07。轻度α地中海贫血受试者的血红蛋白值与相同性别的正常黑人或白人对照受试者相比，在统计学上没有显著差异，但平均红细胞体积和平均红细胞血红蛋白值有显著下降。
