Hyperbilirubinemia in sickle cell disease patients.
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Sickle cell disease (SCD) is a genetically inherited illness, caused by a point mutation in the beta globin gene. It is an autosomal recessive disease. A single base change (A to T) in the b globin chain causes the substitution of amino acid glutamine to valine; the cause of the disorder sickle cell anemia. The mutation leads to an increased body breakdown of the red blood cells with the mutant globin chain therefore causing an excepted high level of bilirubin in blood. These levels when they exceed 3.0mg/dl can have diverse effects in the pathophysiology of sickle cell disease. This study aimed at assessing for the presence of hyperbilirubinemia in sickle cell disease patients in Uganda. The study was carried out from Department of Biochemistry and Sports science Makerere University with plasma samples obtained from Mulago hospital. Determination of the plasma bilirubin levels both total and conjugated was done using the van der bergh assay. The mean of the total bilirubin in the 50 plasma samples analysed was 1.646mg/dl with standard deviation of 1.0. The mean for the concentration of the plasma unconjugated bilirubin (1.403±0.09) was higher than the mean for the healthy population (1.0±0.2). The concentration of plasma conjugated bilirubin (0.24±0.08) in the sickle cell disease patients was found to be in the normal ranges of the healthy population (0.3±0.05). In conclusion, it was found out that the plasma bilirubin levels were high but not high enough to be considered hyperbilirubinemia. Therefore, there was no hyperbilirubinemia in sickle cell disease patients in Uganda.