Sickle cell disease (SCD) has a variable clinical course attributed to genetic factors. SCD is characterised by homozygous haemoglobin S (2S2). The objective of the study was to determine the haplotype frequency in sickle cell disease patients and their correlation with clinical and haematological profiles. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using restriction endonucleases Xmn I, Hind III, Hinf I and Hinc II were used for analysis of 5 polymorphic sites in the -globin cluster in 245 homozygous sickle cell patients. Among the analysed chromosomes, 426 (86.9%) were Benin (BEN) type, 17 (3.5%) were Senegal (SEG) type; 31(6.3%) had the Cameroon (CAM) type; 6 (1.2%) had Bantu/Central African Republic (CAR); while 10 (2.1%) revealed atypical (ATY) haplotypes. No association was observed between the different haplotypes and haematological events although these were improved in the BEN/SEG haplotype. No association was observed between the different haplotypes and clinical events although lesser frequency of clinical events was observed in patients with at least one type of the SEG haplotype. A significant association (p<0.05) was also observed between the onset of prognathism and BEN/SEG haplotypes compared to BEN/BEN and ben/CAM. Findings suggest that SEG haplotype paired with BEN may contribute towards milder haematological profile and clinical severity in sickle cell disease.
|Journal||Journal of International Medical Research|
|Publication status||Accepted/In press - 7 May 2021|