Spectrum of hemoglobinopathies in the state of Madhya Pradesh, India

Background: Hemoglobinopathies are common genetic disorders of hemoglobin (Hb). Identification of these disorders is immensely important epidemiologically, and they can be prevented by population screening. Inherited abnormalities of hemoglobin synthesis include a myriad of disorders ranging from thalassemia syndromes to structurally abnormal hemoglobin variants. Identification of these disorders is immensely important epidemiologically and aid in prevention of more serious hemoglobin disorders. The present study was carried out to evaluate the spectrum of hemoglobinopathies in the state of Madhya Pradesh. In this study, the hemoglobinopathies were detected by fully automated electrophoretic Apparatus of Interlab Genio S.Materials and Methods: In our study, screening of all anemia cases was done initially by clinical history including family history, cast, and ethnicity of the patients. All cases were subjected to physical examination, a blood count and peripheral blood examination. In addition, sickle cell phenomenon and alkali denaturation for fetal Hb were also carried out. The more confirmatory test by Cellulose Acetate Membrane electrophoresis at alkaline pH (CAM) was followed in all cases of suspected hemolytic anemia.Results: The study confirmed that hemoglobinopathies were prevalent in 10.17% in a cohort of anemic patients. Prevalence of sickle cell b thalassemia was 4.33%, sickle cell trait 1.50%, b thalassemia trait 2.44%, sickle cell disease 0.94%, and b thalassemia major 0.94% was observed. The prevalence of sickle cell-b thalassemia was significantly higher and prevalence of sickle cell disease and b thalassemia major was equal and lowest.Conclusion: This study provides for the first time comprehensive databases on the spectrum and pattern of hemoglobinopathies in a rural tertiary care center. Significance of these observations has been discussed, and necessity for extensive survey work with improved techniques in future is proposed