Background: Sickle cell disease is common hereditary hemoglobinopathy that occurs primarily in the African Americans, Arabians and Indians. It is a multi - system disease, associated with episodes of acute illness and progressive organ damage. [1] It is a genetic disorder, characterized by the presence of the hemoglobin S (HbS), where valine is replace by glutamic acid (βs 6 Glu→Val) at the beta globin chain, that has a single point mutation (GAG →GTG) at the sixth codon of the β- globin (HBB) gene. The sr. iron is regulated by HAMP gene. So the aim of our study was to find out the Sr. Iron, TIBC levels and HAMP gene mutation in sickle cell disease. Aim: To study the Sr. Iron, TIBC levels and HAMP gene mutation in sickle cell disease. Material and Methods: This study was being conducted in the Department of Biochemistry, People’s College of Medical Sciences and Research Centre (PCMS & RC) and Centre for Scientific Research and Development (CSRD), People’s University Bhopal. The study protocol had been approved by Institutional Ethics committee (IEC) of our institute. This was the hospital based case control study, included 111 SCD patients and 111 healthy controls after applying inclusion and exclusion criteria. The biochemical markers like Sr. Iron and Total Iron Binding Capacity TIBC by Kit. Ferrozine / MgCO3 method and HAMP Gene Polymorphism: Genotyping of G71D of HAMP variants was performed by polymerase chain reaction-single nucleotide polymorphism. Results: The Sr. Iron was found significantly decreased in cases (57.22 ± 25.42; 106.33 ± 26.62) compared to controls. Serum Total iron binding capacity (TIBC) was found increase significantly very high (57.22 ± 25.42; 289.85 ± 33.40) in cases of SCD. The results of Genotyping of HAMPG71D variant in SCD patients revealed that, 111 out of 111 (100%) patients showed wild type genetic profile, 0/111 (0%) had variation in HAMP-G71D. So, no any single mutation found in SCD patients. The healthy control studies, (100%) were carried a wild type genetic profile in HAMPG71D gene. So, no statistically significant difference found in gene frequencies of G71D mutation was observed in between SCD patients and controls. Conclusions: The study concluded that, as the serum iron level decreases the total iron binding capacity (TIBC) increases in Sickle cell disease patients, this could be biochemically important diagnostic tests for the sickle cell disease. The HAMP gene is not showing mutation in the molecular level so we need to find out another parameter in the diagnosis of SCD at molecular level.
