Pootrakul S, Sapprapa S, Wasi P, Na-Nakorn S, Suwanik R
Humangenetik. 1975 Sep 10;29(2):121-6. doi: 10.1007/BF00430348.
In the Far East two types of alpha-thalassemia genes, namely alpha-thalassemia, (alpha-thal1), and alpha-thalassemia2 (alpha-thal2) exist. Definite diagnosis of the alpha-thal1 and alpha-thal2 traits is very difficult because their hematological findings are minimally abnormal or normal. This study attempts to characterize the heterozygotes by hemoglobin chain synthesis in reticulocytes from obligatory cases of the alpha-thal1 and alpha-thal2 traits. Twelve parents of babies with hemoglobin Bart's hydrops fetalis (obligatory alpha-thal1 trait) had the mean total radioactivity alpha/beta ratio of 0.76 +/- SD 0.04, while that of 7 normal controls was 1.06 +/- SD 0.04. The alpha/beta globin chain ratios of 16 cases, who were either parents or offspring of patients with hemoglobin H disease, were found to segregate into 2 groups, i.e. 0.78 +/- SD 0.03 (10 cases) and 0.9l1 and alpha-thal2 traits respectively. The hematological data of the first group showed definite hypochromic microcytic red cells, similar to those of the parents of the hydrops. The second group had significantly higher mean corpuscular hemoglobin than the first group, compatible with alpha-thal2 trait. Our globin chain synthesis study thus appears to be capable of discriminating normal, alpha-thal1 and alpha-thal2 traits.
在远东地区存在两种α-地中海贫血基因，即α-地中海贫血1（α-thal1）和α-地中海贫血2（α-thal2）。α-thal1和α-thal2特征的明确诊断非常困难，因为它们的血液学检查结果仅有轻微异常或正常。本研究试图通过对α-thal1和α-thal2特征的必需病例的网织红细胞中的血红蛋白链合成来表征杂合子。患有血红蛋白Bart胎儿水肿综合征（必需的α-thal1特征）的婴儿的12名父母的平均总放射性α/β比值为0.76±标准差0.04，而7名正常对照者的该比值为1.06±标准差0.04。发现16例血红蛋白H病患者的父母或后代的α/β珠蛋白链比值分为两组，即0.78±标准差0.03（10例）和0.91±标准差0.03（6例），分别对应α-thal1和α-thal2特征。第一组的血液学数据显示有明确的低色素小细胞红细胞，与水肿患儿的父母相似。第二组的平均红细胞血红蛋白明显高于第一组，符合α-thal2特征。因此，我们的珠蛋白链合成研究似乎能够区分正常、α-thal1和α-thal2特征。
