Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand

Thalassemia is the commonest monogenic disorder worldwide and India is home to significant proportion of these patients. The prevalence of beta-thalassemia trait varies around the country ranging from 0.35 to 37.5%. Data regarding mutation spectrum of beta thalassemia from Jharkhand are scanty, though this state has high prevalence of thalassemia. The Aim of study was to explore different mutations prevalent in transfusion-dependent-thalassemia patients in age group of 6 months to 18 years, coming to our centre over period of one month for regular transfusion. Basic characteristics were noted and blood sample were sent for genetic analysis. We studied 51 patients. Their mean age was 9 years. Severe β+/ severe β + was most common genotype found in 78.4% patients followed by severe β+/β0. We found that c.92 + 5 C > G was the commonest mutation. We also report one patient with extremely rare mutation called as Hb Monroe (c.92G > C). The mutation c.92 + 5 C > G has been reported as the commonest mutation in various regions of our country but its frequency varies from 55 to about 71.4%. We found even greater frequency of this mutation (88.2%) in our sample. This study serves to fill the gap in knowledge of mutation spectrum in this under-represented area of our country.