Taleb Brahim Aminetou, Taleb Mariem, Soumaré Harouna, Ghaber Sidi Mohamed, Mohamed Aminetou, Ould Mohamed Salem Boukhary Ali
Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.
Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania.
Front Biosci (Schol Ed). 2024 Jun 12;16(2):11. doi: 10.31083/j.fbs1602011.
Sickle cell disease (SCD) is a major heritable genetic disease in sub-Saharan Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology, moderate the clinical course, and offer prospects for curative treatment of SCD. This study aimed to investigate the influence of single nucleotide polymorphisms (SNPs) in the gene on the levels of HbF and hematological parameters in Mauritanian sickle cell () patients.
Complete blood count was assessed in 565 patients suspected to have SCD. Polymerase chain reaction (PCR)-restriction fragment length polymorphism was performed to identify the , and sequencing was used for genotyping three SNPs: () and () in the intron 2 and () in the regions of the gene in 50 sickle cell patients.
The prevalence of HbSS among the study population was 8.8% (50/565), and the mean (± standard deviation) of HbF level was 15.0% (± 6.0%). Sequencing showed the presence of three genotypes: AA (13.6%), AG (46.6%), GG (39.6%) in rs4671393; CC (17.6%), CT (48.7%), and TT (33.6%) in . All samples from HbSS individuals displayed a wild-type genotype in the rs1052520 allele. The prevalence of minor alleles () and () were 37% and 39%, respectively. There was a statistically significant association ( = 0.034) between rs4671393 SNP and elevated HbF (mean 12.72 ± 6.26%).
The study of three SNPs in the locus in Mauritanian patients with SCD showed a significant association of allele with the HbF level. Further research is needed to explore additional SNPs in the locus and investigate other genetic markers reported to modulate HbF levels, such as and , to improve the management of this potentially life-threatening condition in Mauritania.
镰状细胞病（SCD）是撒哈拉以南非洲地区（包括毛里塔尼亚）的一种主要遗传性疾病。胎儿血红蛋白（HbF）可影响病理生理学、缓解临床病程，并为镰状细胞病的治愈性治疗提供前景。本研究旨在调查毛里塔尼亚镰状细胞（ ）患者中该基因单核苷酸多态性（SNP）对HbF水平和血液学参数的影响。
对565名疑似患有SCD的患者进行全血细胞计数评估。采用聚合酶链反应（PCR）-限制性片段长度多态性方法鉴定 ，并对50名镰状细胞病患者的该基因内含子2中的三个SNP（rs4671393 、rs1052520 ）和 区域中的rs3836947进行基因分型测序。
研究人群中HbSS的患病率为8.8%（50/565），HbF水平的平均值（±标准差）为15.0%（±6.0%）。测序显示存在三种基因型：rs4671393中AA（13.6%）、AG（46.6%）、GG（39.6%）；rs1052520中CC（17.6%）、CT（48.7%）和TT（33.6%）。所有HbSS个体的样本在rs1052520等位基因中均显示野生型基因型。次要等位基因rs4671393（G）和rs3836947（T）的患病率分别为37%和39%。rs4671393 SNP与HbF升高（平均值12.72±6.26%）之间存在统计学显著关联（P = 0.034）。
对毛里塔尼亚SCD患者该基因座中三个SNP的研究表明，rs4671393的G等位基因与HbF水平存在显著关联。需要进一步研究探索该基因座中的其他SNP，并研究其他据报道可调节HbF水平的遗传标记物，如BCL11A和KLF1，以改善毛里塔尼亚这种潜在危及生命疾病的管理。
