Molecular Determination of Factor V Leiden Gene Mutations and Natural Coagulation Inhibitors among Sickle Cell Patients in Ekiti State
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Abstract
Background: The sickle red cell mutation is the result of a single base change in the sixth codon of exon 1 of the β-globin gene responsible for the synthesis of the β-globin polypeptide of the Hb molecule.
Aim: Molecular determination of factor V Leiden gene mutations and natural coagulation inhibitors among sickle cell disease in Ekiti State
Methodology: One hundred and fifty consented sickle cell disease subjects were grouped into 50 SCD in crisis, 50 SCD in steady state and 50 SCD that had never fallen into crisis. 50 control subjects were recruited from apparently healthy individuals, whose haemoglobin phenotype is AA. K2EDTA samples were used for confirmation of haemoglobin genotype using alkaline cellulose acetate electrophoresis method and for analysis of factor V Leiden gene mutation using real-time polymerase chain reaction. Serum samples were used for the analysis of protein C and S using sandwich enzyme linked immunosorbent assay method
Results: Prevalence of Factor V Leiden gene mutation among the study population revealed that four subjects were heterozygous genotype for FVL mutation. Protein C and S were significantly lower in SCD in crisis compared to other study groups
Conclusion: Prevailing normal factor V Leiden genotype among study subjects may be a possible reflection of a low incidence of this genetic risk factor for thromboembolic phenomena in our environment. Mechanism of low levels of proteins C and S among SCD as observed in this study could be associated with either haemolysis or continued vaso-occlusion
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