Prevalence of haemoglobinopathies in anemic females

Background: The β-thalassemias and various other hemoglobinopathies are a major health problem in India. An accurate diagnosis of patients suffering from β-thalassemia syndrome and other hemoglobinopathies is important for prevention and management of major hemoglobin disorders. High-performance liquid chromatography (HPLC) is a highly sensitive and specific method for the accurate diagnosis of thalassemia and other hemoglobinopathies. Methods: Present study was conducted on 1400 females of reproductive age group for screening of hemoglobinopathies in a rural block of north India. Patients were evaluated for presence of anemia with detailed hematological workup. Anemia cases were further screened by HPLC system for presence of any hemoglobinopathy.Results: 855 subjects out of a total of 1400 were found to be anemic. 359 patients had normocytic normochromic anemia, 399 had microcytic hypochromic picture, 37 had macrocytic picture, while 60 patients had dimorphic anemia. 47 cases were detected positive for various types of hemoglobinopathies. 36 patients were positive for β-thalassemia trait/ heterozygous forming the major portion (76.5%), while one (2%) patient was β-thalassemia intermedia / homozygous and was non-transfusion dependent. 3 patients were positive for HbE heterozygous and hereditary persistence of fetal hemoglobin each, two for HbD Punjab, one each for HbS heterozygous and Hb Lepore.Conclusions: The detection of various hemoglobinopathies is the key to diagnosis and proper treatment of various types of anemia. Antenatal screening should be an integral part of workup in pregnant females to prevent morbidity related to hemoglobinopathies like thalassemias