Spectrum of hemoglobinopathies in Orissa, India

Five hundred and 20 cases (279 males; 241 females), referred for anemia, with a wide age range, from different parts of the state of Orissa, India, were investigated to evaluate the extent of the prevalence of hemoglobinopathies (sickle cell disorders and thalassemias) by analyzing the associated hemoglobin (Hb) profiles, Hb genotypes, as well as the clinical and hematological parameters. We found sickle cell trait (Hb AS) in 131 cases (62 males; 69 females), homozygous sickle cell anemia in 49 cases (34 males; 15 females) and Hb S-beta thalassemia (S-beta-thal) in 17 cases (nine males; eight females). There were also 46 cases (32 males; 14 females) of beta-thal major, 103 cases (51 males; 52 females) of beta-thal trait, six cases (four males; two females) of Hb E trait [beta26(B8)Glu-->Lys; GAG-->AAG], and 17 cases (12 males; five females) of Hb E-beta-thal (E-beta-thal). A large proportion of these anomalies were found among the general caste people rather than among the tribal population which constitutes 22% of the total population in this state. Hb E was found mainly in higher castes like Khandayat and Karan, residing in the coastal region of Orissa. This study provides comprehensive data on the spectrum of hemoglobinopathies in this state.