Department of Hematology, Faculty of Medical Laboratory Sciences, Kordofan University, Kordofan, Sudan.
Department of Pathology, Faculty of Medicine, Kordofan University, Kordofan, Sudan.
J Int Med Res. 2022 Sep;50(9):3000605221125050. doi: 10.1177/03000605221125050.
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.
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.
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%.
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.
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。
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。
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。
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。