The spectrum of β-globin gene mutations in thalassemia patients of south-western maharashtra: A cross sectional study

Background: β-thalassemia is a heterogeneous group of inherited hematological disorder. though the importance of mutations in the beta-globin gene causing β-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 ß-globin gene from ß-thalassemia patients from rural areas of south-western maharashtra. material and methods: the patients were analyzed for the ß-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 cd17 (7.56%). 7.27% patients showed ivsi-5 mutations,6.26% showed ivsi-1 mutations. cd 15 mutations were present in 8.69% patients and only 5.39% subjects showed cd 8/9 mutations. this study provides the pattern of ß-thalassemia mutations from rural areas of maharashtra in india. conclusion: this study provides the pattern of ß-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. © journal of krishna institute of medical sciences university