© Kamla-Raj 2001                                                                        Int J Hum Genet, 1(3): 219-223 (2001)

The Prevalence and Heterogeneity of Beta Thalassemia Mutations in The Western Maharashtra Population: A Hospital Based Study

S.S. Ambekar, M.A. Phadke, D.N. Balpande, G.D. Mokashi, V.A. Khedkar,

M.P. Bankar*, P.S. Gambhir, P.M. Bulakh* and D.G. Basutkar

Department of Genetics and Pediatrics, *Department of Biochemistry,

B.J. Medical College, Pune 411 012, Maharashta, India

Key Words  Beta thalassemia; molecular Heterogeneity; b+ thalassemia; b0 thalassemia; Sb+ and Sb0  thalassemia in India; Beta thalassemia mutations in India.

Abstract  The present study was undertaken with the objective to study molecular heterogeneity of b thalassemia, to correlate the phenotype with the genotype in b thalassemia cases, and to know the incidence of different b thalassemia mutations in western Mahrashtra population, from the cases referred to the Genetic Clinic, B.J. Medical College, Pune. Total of 114 subjects were studied. These included 85 (74.6%) known b thalassemia carriers, 25 (21.9%) cases of b thalassemia major and 4 (3.5%) cases of sickle thalassemia. Total of 58 (50.9%) males and 56 (49%) females were studied. Amongst the total 114 cases studied 102 (89.5%) showed presence of IVS 1-5 mutation, while 12 (10.5%) cases showed presence of cd 41/42 mutation. Amongst the population studied the types of b thalassemia prevalent are b+ thalassemia, b0 thalassemia, b+b0 thalassemia, Sb+ thalassemia Sb0 thalassemia. Amongst these b+ thalassemia is the most prevalent type. Frequency of blood transfusion (B.T.) was different in thalassemia patients with different beta globin genotypes. Hematological findings showed that presence of cd 41/42 mutation in homozygous state produces more severe phenotype than that of IVS 1-5 mutation. IVS 1-5 mutation in combination with sickle mutation produces less severe phenotype than that of cd 41/42 mutation with sickle mutation. The comparative incidence of IVS 1-5 mutation in W.M. population is higher than that reported for Maharashtra and T.N. Incidence of cd 41/42 mutation is similar to that found in Tamil Nadu and North-West Pakistan and higher than that reported for Maharashtra. The communities, which showed higher incidence of cd 41/42 mutation, are Muslim and Navbudha. An exclusive occurrence of IVS 1 5 (G-C) and cd 41/42 mutations in Western Maharashtra population will help us to prevent beta thalassemia by prenatal diagnosis.

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