Type and frequency of hemoglobinopathies, diagnosed in the area of Karachi, in Pakistan
Abstract Hemoglobinopathies are one of the major problems in Pakistan. A retrospective analysis of blood samples of 2731 patients from 2010 to 2014 was done at National Institute of Blood Disease Bone Marrow Transplantation for the workup of anemia or other blood related disorders. Whole blood samples in EDTA were collected; complete blood counts with peripheral smears were prepared. Hemoglobin (Hb) electrophoresis on Genio was performed at alkaline pH. Samples showing borderline results were further tested by high performance liquid chromatography or for specific mutation analysis by ARMS PCR. Out of total 2731, 935 (34.2% patients had hemoglobinopathies. Out of these 935 patients who had hemoglobinopathies, beta thalassemia minor 51.8% beta thalassemia major 24.1% HbD trait 6.7, sickle/beta thalassemia 4.5% sickle cell disease 3.9% HbE trait 1.9% and sickle cell trait 1.7% were most common hemoglobinopathies. Less prevalent were delta/beta thalassemia, HbE homozygous, HbD homozygous, and HbH disease.