A Study to Understand the Relation Beween Fetal Haemoglobin, the Hematological Parameters and Xmn i Gene Polymorphism

Sickle cell disease is a public health issue in state of Chhattisgarh. The study focused on three aspects of sickle cells disease. Firstly erythrocyte levels of Hb F (measured by HPLC) was determined and correlated with various hematological indices (measured by cell counter). Secondly Hb F was correlated with Xmn I gene polymorphism of G γ gene using technique of PCR followed by gel electrophoresis. Thirdly mutant beta chain of Hb SS was distinguished from normal beta chain of Hb AA by Liquid chromatography Mass Spectrometry. We found no significant correlation between HbF and other hematological indices. Xmn I RFLP associated with G γ gene has correlation with Hb F levels in SS patients. Mutations in beta chain, particularly SS, are routinely detected by HPLC. Liquid Chromatography Mass Spectrometry can prove to be a viable option for detection of mutations in beta chain, particularly HbSS since mass difference between mutant chain and normal chain is wide enough to be sensitively detected by mass spectrometer.