Background: Fetal Hemoglobin (HbF) level is the major genetic modulator of the hematologic and clinical features of sickle cell anaemia. Fetal hemoglobin genes are regulated genetically. Recently, the BCL11A gene was identified as a regulator of HbF level. The aim of this study to investigate the association of BCL11A genetic polymorphisms (rs11886868) with HbF Level in Sudanese patients with sickle cell anaemia (Hb SS).
Materials and Methods: A cross-sectional observational study included 71 Sudanese patients with sickle cell anemia (Hb SS). Patients under hydroxyurea and those with a history of blood transfusion for at least three months were excluded. Genotyping for rs11886868 was determined using PCR/Sequencing. Fetal hemoglobin level for each patient was quantified and it was compared with Genotype and allele frequencies.
Results: Genetic variants were detected on BCL11A gene rs11886868, rs766432, rs144866206, rs766431. Genotype of rs1886868 and rs766432 found to have a statistically significant effect on the HbF level (p-value <0.0001), rs766432 (p-value 0.042) and also found to have significant effects on the clinical severity of sickle cell anaemia, but rs144866206 and rs766431 showed a statistically insignificant association on HbF level (p-value 0.173 and 0.546respectively).
Conclusion: The BCL11A genetic polymorphisms (rs11886868, rs766432) in Sudanese patients with sickle cell anaemia were associated with HbF levels and complication of this disease.