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阿曼镰状细胞异常的流行情况:相关文献回顾。

The prevalence of sickling abnormality in Oman: A review of relevant publications.

机构信息

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

1 Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; 2 Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt;.

出版信息

Acta Biomed. 2022 Aug 31;93(4):e2022289. doi: 10.23750/abm.v93i4.13336.

Abstract

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.  The prevalence of sickle cell trait and disease reaches up to 4.8-6% and 0.2% respectively, which is the highest among the Arab Gulf states.  Omani population represents a variability of HbS genotype combinations with other Hb genotypes modify the clinical severity of the disease. The most prevalent sickling abnormality in Oman is Hb S/S (SCA) followed by Hb S/β-thalassemia. Omani children with SCD with high Hb F level had less severe disease. More than two-thirds of SCD cases were running a mild course of the disease due to the high prevalence of  a-thalassemia trait. The severity index has been correlated with the early age of presentation, the absence of  a-thalassemia trait and the lower level of HbF as well as to the existence of different β-globin gene haplotypes.  S/ β0 presented with the same clinical severity of S/S while those with S/ β+ had some splenic function into adulthood and were more prone to splenic sequestration. The unique existence of HbS-Oman (a severe variant of sickle hemoglobinopathy) markedly increased the severity of the disease. Compound heterozygotes HbS-Oman resulted in very severe clinical manifestations with transfusion-dependency and hypersplenism early in life. This paper summarizes and reviews βs gene haplotypes in patients with sickle cell anemia (SCA) in Oman. (www.actabiomedica.it).

摘要

镰状细胞病(SCD)是由β-珠蛋白基因 HBB 突变引起的,广泛分布于疟疾流行地区。镰状细胞特征和疾病的患病率分别高达 4.8-6%和 0.2%,在阿拉伯海湾国家中患病率最高。阿曼人口代表了 HbS 基因型组合的多样性,其他 Hb 基因型可改变疾病的临床严重程度。在阿曼最常见的镰状化异常是 Hb S/S(SCA),其次是 Hb S/β-地中海贫血。HbF 水平较高的阿曼 SCD 儿童疾病较轻。由于α-地中海贫血特征的高流行率,超过三分之二的 SCD 病例呈轻度疾病过程。严重程度指数与早期发病、缺乏α-地中海贫血特征以及 HbF 水平较低以及不同的β-珠蛋白基因单倍型有关。S/β0 与 S/S 具有相同的临床严重程度,而 S/β+在成年后具有一定的脾脏功能,更容易发生脾脏隔离。HS-Oman(一种严重的镰状血红蛋白病变体)的独特存在显著增加了疾病的严重程度。HS-Oman 的复合杂合子导致严重的临床表现,在生命早期就需要输血和脾功能亢进。本文总结和回顾了在阿曼的镰状细胞贫血(SCA)患者中的βs 基因单倍型。(www.actabiomedica.it)。

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