Ballas S K, Atwater J, Burka E R
Hemoglobin. 1977;1(7):651-62. doi: 10.3109/03630267708999172.
A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia. Hemoglobin A was not detected in the subject's hemolysate. The alpha thalassemia gene was expressed by an alpha/non-alpha synthesis ratio of 0.71 plus or minus 0.07 and was equally rates unbalanced in the peripheral blood and the bone marrow. The total radioactivity of the abnormal chains was equal, indicating equal rates of transcription and translation of the abnormal structural genes. Since the rate of synthesis of betaS and betaO was equal to the proportions of these abnormal chains in the peripheral blood, the abnormal gene products were equally stable. The mildness of the anemia, compared to that of the other reported S-O Arab double heterozygotes, may be due to the moderating influene of the alpha thal gene.
一名22岁患有轻度贫血的美国黑人被发现为血红蛋白S、血红蛋白O阿拉伯型和α地中海贫血的三重杂合子。在该受试者的溶血产物中未检测到血红蛋白A。α地中海贫血基因通过α/非α合成比率为0.71±0.07来表达，并且在外周血和骨髓中不均衡率相同。异常链的总放射性相等，表明异常结构基因的转录和翻译速率相同。由于βS和βO的合成速率与外周血中这些异常链的比例相等，所以异常基因产物同样稳定。与其他报道的S - O阿拉伯型双杂合子相比，该患者贫血症状较轻可能是由于α地中海贫血基因的调节作用。
