Frequency of Various Hemoglobinopathies

Abstract

Objective: To see the pattern of hemoglobinopathies in the blood samples, received for Hb electrophoresis. Introduction: Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Approximately 250 million people (4.5% of the world population) carry potentially pathological haemoglobinopathy gene. Some of the hemoglobinopathies are due to the production of abnormal hemoglobin proteins. Other types of hemoglobinopathies result from reduced production of hemoglobin proteins that otherwise are normal. We attempted to see the pattern of various hemoglobinopahies in the blood samples of the patients referred to our center for Hb electrophoresis. Setting: Diagnostic & Research Lab of Liaquat University of medical & health sciences, Jamshoro, Pakistan. Methodology: In this retrospective study, we included all the consecutive cases from July 2012 to June 2013, referred to Diagnostic & Research Lab, for Hb electrophoresis. Hemoglobin electrophoresis was performed by HPLC Variant II Bio-Rad. Results: A total of 10,000 samples were received during the study period. 15% (1,500/10,000) subjects had confirmed haemoglobinopathies. Of them 43.2 %( 661/1530) were males & 56.7 %( 869/1530) were females. The most predominant was thalassemia trait 8.5% (850/10,000)followed by thalassemia major 3.25 %( 325/10,000), HbD 1.19% (119/10,000), HbS 1.26 %(126/10,000), HbE 0.8% (80/10,000). Conclusion: This study shows that, prevalence of hemoglobinopathies is not uncommon in our population, Therefore, early detection and characterization of haemoglobinopathies is necessary to reduce the burden of affected births in Pakistan.