Molecular analysis of two Polymorphisms to detect the (C)ces type 1 haplotype in sickle cell patients in Uganda.
Nairuba, Lillian Anna
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Sickle cell disease is a group of inherited red blood cell disorders. RBC transfusion is critical in managing acute and chronic complications in sickle cell disease. However, it is complicated by RBC alloimmunization. The molecular basis of alloimmunization due to weak C, c e, Rh42 and Rh20 antigens among Ugandan sickle cell patients was assessed for a sample population of 42 individuals. The (C)ces is characterised by a comple,x antigen prfile in which it codes for weak RH antigens which are clinically relevant during blood transfusion. DNA extracted from whole blood was used and samples were first tested for their hemoglobin status using PCR amplification. An Allele Specific PCR was used then to detect the 3' breakpoint in the RHD intron 7 which signifies presence of the (C)ces haplotype. Results obtained showed 19 samples positive for sickle hemoglobin, 5 carriers for sickle cell and 18 normal individuals. Out of the 42 samples, 23 samples tested positive for the haplotype and 19 tested negative. Out of those that tested positive for sickle hemoglobin, 13 also tested positive for the haplotype and 6 tested negative. Out of those that tested normal for hemoglobin, 10 also tested positive for the haplotype and 13 tested negative. The haplotype was found at a frequency of 54. 8% and a prevalence of 68.42% among sickle cell patients and a prevalence of 43.5% among normal donors. There was no relationship found between the sickle cell trait and the haplotype with a p value of 2.6 which was greater than the significant level. The frequence obtained was relatively high and this is could be linked to the fact that the population used was entirely African as compared to that obseved by Hajer et al 2013. The findings of this study will be of great help help in identification of suitable donors especially in the context of Sickle cell disease.