Genetic epidemiology of thalassaemic patients

The study was hospital based. Blood samples were collected from 736 patients from Hamidia Hospital, Bhopal and local private clinics with their informed consent. The patients belonged to Sindhi, Punjabi, Muslim, Jain, Tribal and Harijan communities. Communities other than Muslims were grouped as Hindus. Their age ranged from four months to 52 years. The diagnosis was based on clinical and haematological parameters. Following methods were used for the screening and molecular analysis. Naked eye single tube red cell osmotic fragility test (NESTROFT) for screening purpose. Complete blood picture (CBP) was applied on NESTROFT positive cases. High performance liquid chromatography (HPLC- Bio Red) was used to determine HbA2 and HbF for confirmation of beta-thalassaemia. Amplification Refractory Mutation System - Polymerase Chain Reaction (ARMS-PCR) was used for molecular analysis.