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一名患有β0地中海贫血和葡萄糖-6-磷酸脱氢酶缺乏症的沙特患者的良性镰状细胞病。

A benign sickle-cell disease in a Saudi subject with beta zero-thalassemia and glucose-6-phosphate dehydrogenase deficiency.

作者信息

Alayash A I, Bonaventura J, al-Quorain A

机构信息

Duke University Marine Laboratory, Pivers Island, Beaufort, N.C.

出版信息

Hum Hered. 1989;39(2):118-20. doi: 10.1159/000153847.

Abstract

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.

摘要

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。

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