Haemoglobinopathies - thalassaemias and abnormal haemoglobins in eastern Uttar Pradesh and adjoining districts of neighbouring states

摘要

The haemoglobinopathies - thalassaemias and abnormal haemoglobins - constitute a major burden of genetic diseases in India. Our study, based on index cases from 120 families detected between May 1999 and May 2003, highlights the ethnic distribution of haemoglobinopathies in regions in and around Varanasi comprising 8-10 districts of eastern Uttar Pradesh and adjoining districts of Bihar, Jharkhand, Chhattisgarh and Madhya Pradesh. Homozygous and heterozygous beta-thalassaemia was the most common (66.9%), with thalassaemic haemoglobinopathies HbE-beta-thalassaemia (15.9%) and HbS-beta-thalasseamia (7.8%) contributing to almost a quarter of the cases. Along with HbSS disease (4.3%), the results indicate a confluence of beta-tha-lassaemia, HbS and HbEin this region. IVS1-5 nt was the most common mutation in the few carriers analysed for mutation detection. The significance of the study lies in the demonstration of wide prevalence of beta-thala-ssaemia across all castes and communities of this region, with migrant population groups of Sindhis and Punjabis comprising only 5.8% of the index cases. Also, HbE seems to have a much higher presence in this region than so far believed and HbS has a significant presence in general castes as well.