Genotyping for dar allele in sickle cell disease patients in Uganda.

Abstract

Sickle Cell Disease is an hereditary disorder that results from the substitution of a glutamic acid by valine resulting from DNA substitution from GAG to GTG (Ellithy et al., 2015) in the beta hemoglobin molecule. Blood transfusions is one of the basic and affordable SCD treatment though it is complicated by allo-immunisation which occurs in patients with the DAR allele. To determine the frequency of DAR allele in sickle cell disease patients and in normal individuals in Uganda. A total of 50 samples where included in this case control study that is to say 50% (25) of the samples were received from Mulago Sickle Cell Clinic while the control samples was received from Nakasero Blood Bank. Sickle Cell genotyping was done using a bi-directional PCR test and DAR genotyping was done using a PCR-RFLP procedure as explained in the methodology section. Only 24% (6) samples from Nakasero Blood Bank were heterozygotes while the 76% (19) were homozygous normal individuals. All samples from Mulago Sickle Cell Clinic were homozygous sickler. This study revealed that the frequency of the DAR allele is 100% in both sickle cell disease patients and in normal individuals. Molecular genotyping for DAR allele in the Ugandan population can’t be achieved using RHD16F (sense) and RHDEX7R (anti sense) primers.