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苏丹人群中 HbS 等位基因的血液学和分子分析。

Hematological and molecular analyses of the HbS allele among the Sudanese population.

机构信息

Department of Hematology, Faculty of Medical Laboratory Sciences, Kordofan University, Kordofan, Sudan.

Department of Pathology, Faculty of Medicine, Kordofan University, Kordofan, Sudan.

出版信息

J Int Med Res. 2022 Sep;50(9):3000605221125050. doi: 10.1177/03000605221125050.

Abstract

OBJECTIVE

The purpose of this study was to perform hematological and molecular analyses of the HbS allele of the hemoglobin subunit beta gene in the Sudanese population.

METHODS

This was a descriptive cross-sectional study. Hematological parameters and fetal hemoglobin (HbF) levels were assessed in all participants. Data were gathered through the use of questionnaires and laboratory investigations. The β-globin haplotypes, S allele distributions, and hematological parameters with HbF levels were investigated using PCR-restriction fragment length polymorphism, gel electrophoresis, and a Sysmex hematology analyzer, respectively.

RESULTS

According to our findings, the Bantu (BA) haplotype was found in 10.8% of participants with homozygous uncontested haplotypes, followed by Benin (BA) and Sudan (SU), each in 9.8% of participants. This Sudanese group from Northern Kordofan lacked the Arab-Indian haplotype. Two heterozygous versions of undisputed haplotypes were found in 17.3% of participants: SU/BA in 10.8% and CA/BE in 6.5%.

CONCLUSION

As a result of sickle cell anemia, this investigation found changes in hematological parameters. In the Sudanese population, a new haplotype of the S gene was discovered.

摘要

目的

本研究旨在对苏丹人群血红蛋白亚单位β基因的 HbS 等位基因进行血液学和分子分析。

方法

这是一项描述性的横断面研究。所有参与者的血液学参数和胎儿血红蛋白 (HbF) 水平均进行了评估。通过使用问卷和实验室检查收集数据。β-珠蛋白单倍型、S 等位基因分布以及与 HbF 水平相关的血液学参数分别通过 PCR-限制性片段长度多态性、凝胶电泳和 Sysmex 血液分析仪进行研究。

结果

根据我们的发现,在纯合无争议单倍型的参与者中,发现 10.8%为班图(BA)单倍型,其次是贝宁(BA)和苏丹(SU),各占 9.8%。来自北科尔多凡的苏丹人缺乏阿拉伯-印度单倍型。在 17.3%的参与者中发现了两种无争议单倍型的杂合版本:10.8%为 SU/BA,6.5%为 CA/BE。

结论

由于镰状细胞贫血,本研究发现血液学参数发生了变化。在苏丹人群中,发现了 S 基因的一种新单倍型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73c1/9502246/3b396c32868b/10.1177_03000605221125050-fig1.jpg

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