The Spectrum of beta-Globin Gene Mutations in Thalassemia Patients of South-Western Maharashtra: A Cross Sectional Study

Background: beta-thalassemia is a heterogeneous group of inherited hematological disorder. Though the importance of mutations in the beta-globin gene causing beta-thalassemia have been reported worldwide, no data are available from rural population of South-Western Maharashtra. Objective: In the present study we aimed to characterize the mutations in B-globin gene from beta-thalassemia patients from rural areas of South-Western Maharashtra. Material and Methods: The patients were analyzed for the beta-globin gene mutations included IVS I-1 (G-T), IVS I-5 (G-C), cd 71/72 (+A), cd 41/42 (-TTCT), codon (cd) 8/9 (+G), cd 17 (A-T), cd 95 (+A), cd 43 (-C), cd 41 (-C), cd 35 (C-A), cd 26 (G-T), cd 19 (A-G), cd 15 (-T), cd 27/28 (+C) and cd 14/15 (+G) with the help of Multiplexed Amplification Refractory Mutation System-Polymerase Chain Reaction (MARMS-PCR). Results: Out of the common mutations studied the cd 71/72 (21.54%), cd 19 (13.7 %). cd 41/42 (9.68%) and cd 41 (9.6%) showed high prevalence followed by cd 17 (7.56 %). 7.27% patients showed IVSI-5 mutations, 6.26 % showed IVSI-1 mutations. Cd 15 mutations were present in 8.69 A) patients and only 5.39 % subjects showed cd 8/9 mutations. This study provides the pattern of beta-thalassemia mutations from rural areas of Maharashtra in India. Conclusion: This study provides the pattern of beta-thalassemia mutations from rural population which will open a new avenue for implementation of molecular diagnostics for prenatal diagnosis and prevention of blood disorder by proper counseling in rural areas.