Mears J G, Lachman H M, Labie D, Nagel R L
Blood. 1983 Aug;62(2):286-90.
We have determined the frequency of deletional alpha-thalassemia in black populations in the USA and Africa that harbor sickle cell anemia. In normals, the frequency of the chromosome bearing a deletion of one of the two normal alpha gene loci, designated (-alpha), ranged from 0.12 to 0.16, and in sickle trait subjects, the frequency ranged from 0.18 to 0.20. By contrast, in sickle cell anemia subjects, the frequency was significantly greater and ranged from 0.22 to 0.33. Analysis demonstrated that the greater frequency in the last group was primarily a result of an increased number of subjects with alpha-thalassemia trait (also called homozygous alpha-thalassemia-2). In addition, the frequency of the (-alpha) chromosome was found to increase progressively with age, supporting the hypothesis that alpha-thalassemia is favorable to the survival of subjects with sickle cell anemia. Thus, individuals who inherit alpha-thalassemia and sickle cell anemia may represent a subgroup of patients with a longer life expectancy.
我们已经确定了美国和非洲携带镰状细胞贫血的黑人人群中缺失型α地中海贫血的发生率。在正常人中，携带两个正常α基因座之一缺失的染色体（称为-α）的发生率在0.12至0.16之间，在镰状细胞性状个体中，发生率在0.18至0.20之间。相比之下，在镰状细胞贫血患者中，发生率显著更高，在0.22至0.33之间。分析表明，最后一组中较高的发生率主要是由于具有α地中海贫血性状（也称为纯合子α地中海贫血-2）的受试者数量增加。此外，发现-α染色体的发生率随年龄逐渐增加，这支持了α地中海贫血有利于镰状细胞贫血患者生存的假说。因此，继承了α地中海贫血和镰状细胞贫血的个体可能代表预期寿命更长的患者亚组。
