Alayash A I, Bonaventura J, al-Quorain A
Duke University Marine Laboratory, Pivers Island, Beaufort, N.C.
Hum Hered. 1989;39(2):118-20. doi: 10.1159/000153847.
Sickle-cell disease with raised fetal hemoglobin is found relatively frequently in the eastern part of the Arabian Peninsula. In contrast to the severe and sometimes life-threatening complications of sickle-cell disease in the black population, Saudi Arabs homozygotes for HbS gene exhibit a mild course for this disease. Here we present a Saudi sickle-cell patient with an unusually low fetal hemoglobin level. Moreover, this individual has beta 0-thalassemia and a deficiency in the enzyme glucose-6-phosphate dehydrogenase. Clinical and hematological examinations revealed a remarkably benign condition. This observation is potentially important since most of the mild clinical symptoms of sickle-cell disease have been attributed to high fetal hemoglobin. Clearly in this case, other factors are operating and may be also operating in those patients with high fetal hemoglobin.
胎儿血红蛋白升高的镰状细胞病在阿拉伯半岛东部相对常见。与黑人人群中镰状细胞病的严重且有时危及生命的并发症不同,携带HbS基因的沙特阿拉伯纯合子患者患此病的病程较轻。在此,我们报告一名胎儿血红蛋白水平异常低的沙特镰状细胞病患者。此外,该个体患有β0地中海贫血且缺乏葡萄糖-6-磷酸脱氢酶。临床和血液学检查显示病情明显良性。这一观察结果可能具有重要意义,因为镰状细胞病的大多数轻微临床症状都归因于高胎儿血红蛋白。显然在这种情况下,其他因素在起作用,并且可能也在那些胎儿血红蛋白水平高的患者中起作用。