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    Molecular analysis of the MNS, KELL and LEWIS blood group systems in Sickle cell disease patients and blood donors from Kampala, Uganda

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    Master's Dissertation (2.408Mb)
    Date
    2025
    Author
    Ssegawa, Faizo Mugerwa
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    Abstract
    Introduction: The Sickle cell disease (SCD) is a major red blood cell genetic disorder which is majorly managed by red blood cell transfusion that sometimes culminates into alloimmunisation. In 2016, the rate of alloimmunisation in Ugandan transfused patients was reported to be 6.1%. Objective: This study aimed to determine the genetic diversity of the MNS, KELL and LEWIS blood group systems in sickle cell disease patients and blood donors from Kampala, Uganda. Methods: A total of 250 samples from Mulago Sickle cell clinic and 250 samples from Nakasero blood bank were collected. Genomic DNA from all samples was extracted and this was used to determine the genetic diversity of the MNS, KELL, and LEWIS blood group systems by Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. Results: The study revealed that MNS+s+ blood group of the MNS is the most prevalent with frequencies of 47.2% and 48.4% among sickle cell disease patients and donors respectively. S-s-U- was not detected in sickle cell patients whereas among donors, it was at a frequency of 1.2%. S-s-U+var was at a frequency of 0.4% among sickle cell patients and 0.8% among donors. All individuals in both groups were homozygous for KEL*2 and KEL*4. KEL*6 was only in a heterozygous state with KEL*7 in both groups with a frequency of 25.5% among sickle cell patients and 18.4% among donors. KEL*7 in a homozygous state was the most prevalent with frequencies 74.5% and 81.6% among sickle cell patients and blood donors respectively. The 59T>G SNP in the FUT3 gene of the LEWIS blood groups systems was detected at frequencies of 6.8% and 10.8% among sickle cell disease patients and blood donors respectively whereas 508G>A was at a frequency of 42.1% among sickle cell disease patients and 50.4% among donors. There was no individual in both groups that was detected with 1067T>A SNP. Conclusion: This study revealed that MNS, KELL and Lewis blood groups varied between sickle cell disease patients and blood donor groups and therefore Extended DNA typing of the MNS, KELL and LEWIS blood group systems by PCR and RFLP methods can contribute to management of alloimunisation in multi transfused sickle cell disease patients.
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    http://hdl.handle.net/10570/14557
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