Spectrum of hemoglobinopathies in the state of Orissa, India: a ten years cohort study.

ABSTRACT

OBJECTIVES: i) To determine the pattern of spectrum of hemoglobinopathies in the state of Orissa, ii) To find the ethnic groups at high risk of hemoglobinopathies, iii) Geographical distribution of hemoglobinopathies, and iv). To know epidemiological aspects of hemoglobinopathy cases in Orissa. MATERIAL AND METHODS: One thousand fifteen cases of anemia were analysed referred from different peripheral hospitals and Medical Colleges and Hospitals of Orissa state for diagnosis and counseling during 1994 to 2003. About 2-3 ml. intravenous blood samples were collected after obtaining informed consent from each individual. Hematological indices were measured using MS4 Cell Counter. Background data of each individual were recorded like age, sex, caste, place of origin, consanguinity, etc. Hemoglobin electrophoresis was carried out on CAM in Tris-EDTA-Borate buffer at pH 8.9 and quantification of A2 fraction of hemoglobin by elution method. The value more than 3.5% of A2 fraction of hemoglobin was taken as cut off point for beta-thalassemia trait and more than 10% as Hb E. Hb electrophoresis in acidic medium (pH 6.2) was also carried out to confirm Hb D or E band. Estimation of fetal hemoglobin was done. Family studies were carried out to confirm the diagnosis. RESULTS: Most common hemoglobinopathies observed out of 1015 cases were sickle cell trait (29.8%), sickle cell disease (7.5%), sickle cell-beta-thalassemia (1.7%), beta-thalassemia trait (18.2%), thalassemia major (5.3%), thalassemia intermedia (0.9%), Hb E trait (0.9%), Hb E disease (0.3%), E-beta-thalassemia (0.7%), Hb D trait (0.2%) and SD disease (0.2%). Sickle cell disorders with high level of fetal hemoglobin were common in general castes (0.3-20.7%), scheduled castes (0-8.9%) and scheduled tribals (0-5.5%).Transfusion dependent beta-thalassemia syndrome was prevalent in Brahmin, Karan, Khandyat, Teli, etc. Most of the cases belong to Anugul district, followed by Khurda, Nayagarh, Phulbani, Cuttack, Jajpur, Dhenkanal, Ganjam, Keonjhar, Mayurbhanj, etc. CONCLUSIONS: The heterogeneous population is harbouring almost all major hemoglobinopathies in general castes, scheduled castes and tribes, belonging to Coastal and South-Western regions of Orissa. This study provides for the first time a comprehensive database on the pattern of spectrum of hemoglobinopathies in Orissa.