Serum Ferritin Levels and Haemochromatosis Genes (C282Y and H63D) in Nigerian Patients with Sickle Cell Anaemia in the Steady State

Abstract

Background: Iron overload (serum ferritin >1000ng/ml) occurs in patients with sickle cell anaemia (SCA) and it is often linked to red cell transfusions and genetic mutations. Haemochromatosis is an autosomal recessive disease which is associated with polymorphisms of C282Y and H63D in the gene. Objective: This study evaluated the prevalence of the H63D and C282Y mutations and iron overload in patients with SCA in our centre. Materials and Methods: This is a cross-sectional study of 85 patients with homozygous haemoglobin S (Hb SS) disease and 85 age and sex-matched haemoglobin A only individuals as controls. The haemogram and serum ferritin levels (to assess iron status) were obtained using standard procedures. Haemochromatosis HFE gene mutations were analysed after amplification by polymerase chain reaction, followed by the use of appropriate restriction enzymes. Results: The mean age of patients and controls were 29.8 ± 9.4 and 30.1 ± 9.6 (p = 0.876) respectively. Funding Statement: Funding was provided by the authors. Declaration of Interests: Authors declare no conflict of interest. Ethical Approval Statement: Ethical approval was obtained (IRB/IEC/0004553) and informed consent was obtained from all participants.