Pembrey M E, Perrine R P, Wood W G, Weatherall D J
Am J Hum Genet. 1980 Jan;32(1):26-41.
The sickle cell (beta s) gene occurs at a high frequency in the oasis populations of Eastern Saudi Arabia. However, as compared with the disorder in Africans, sickle cell anemia runs an unusually benign clinical course in this populations; this has been attributed in part to the relatively high levels of fetal hemoglobin (Hb F) which characterize Saudi Arabians with this condition [1, 2]. As yet, there is no satisfactory explanation for this remarkable phenomenon. To learn more about the expression of the beta s gene in Eastern Saudi Arabia, we examined its interaction with beta 0 thalassemia. We found that remarkably high levels of Hb F in this population are not restricted to individuals with sickle cell anemia but also occur in compound heterozygotes for the beta s and beta 0 thalassemia (beta 0 thal) genes. Additionally, this study has characterized sickle cell-beta 0 thalassemia (S-beta 0 thal) in Eastern Saudi Arabia for the first time.
镰状细胞(βs)基因在沙特阿拉伯东部的绿洲人群中出现频率较高。然而,与非洲人的这种疾病相比,镰状细胞贫血在该人群中呈现出异常良性的临床病程;这部分归因于胎儿血红蛋白(Hb F)水平相对较高,这是患有这种疾病的沙特阿拉伯人的特征[1,2]。迄今为止,对于这一显著现象尚无令人满意的解释。为了更多地了解βs基因在沙特阿拉伯东部的表达情况,我们研究了它与β0地中海贫血的相互作用。我们发现,该人群中极高水平的Hb F不仅限于镰状细胞贫血患者,也出现在βs和β0地中海贫血(β0 thal)基因的复合杂合子中。此外,本研究首次对沙特阿拉伯东部的镰状细胞-β0地中海贫血(S-β0 thal)进行了特征描述。