Hemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study.

Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India. All individuals referred to the institute from 1st January 2012 to 31st August 2020 for diagnosis were included in the study. Demographic details, clinical and transfusion history were obtained. Hemoglobin electrophoresis or High-Performance Liquid Chromatography (Variant II, Bio-Rad) was performed to identify the type of hemoglobinopathy. Molecular characterization of unknown or rare variants was performed  wherever necessary. During the study period 13,587 individuals were screened. Homozygous beta thalassemia was observed in 0.6% of the patients, whereas SCD was observed in 12% of the patients. Seventy-four individuals have either hereditary persistence of fetal hemoglobin (HPFH) or delta beta thalassemia. More than 50% of SCD patients referred were over the age of 12 years. SCD disease was more common among Pradhan, Gond and Baiga tribes whereas HPFH and delta beta thalassemia was found among Other socially and educationally backward classes. High occurrence of hemoglobinopathies in central India warrants the need of large scale screening in highly prevalent communities for its prevention.