Genotyping the Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.

Background: 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.

Methods: 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.

Results: 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%).

Conclusions: 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.