Pradnya Phalak; Abhijit Pratap
Abstract
Haemoglobinopathies are genetic disorders arising due to defect in the globin chain of haemoglobin. It is relatively common amongst genetic disorders. Beta thalassemia and Sickle cell ...
Read More
Haemoglobinopathies are genetic disorders arising due to defect in the globin chain of haemoglobin. It is relatively common amongst genetic disorders. Beta thalassemia and Sickle cell are two commonest types of haemoglobinopathy encountered and clinically range from mild or asymptomatic condition to life threatening condition requiring blood transfusions for survival. In India, haemoglobinopathies seen are both thalassemias and sickle cell syndromes. The aim of the study is to determine the prevalence of haemoglobinopathies at our tertiary care centre from the haemoglobin sample processed. Accordingly, the study estimated the haemoglobin variant by HPLC method on 100 patients over 3 years and the diagnosis of haemoglobinopathies were confirmed after taking into consideration the results of variant study, haematological parameters and clinical profile of the patients. The results revealed out of 100 patients, 27 patients showed abnormal haemoglobin variant study and the most common haemoglobinopathy observed was 17 cases of beta thalassemia trait, 4 cases of sickle cell trait, 4 cases of sickle beta thalassemia, and 1 case of haemoglobin E trait and beta thalassemia major. The abnormal haemoglobin most commonly prevalent was beta thalassemia trait which was similar to other studies done in India and many subpopulation studies. All haemoglobinopathies were advised family study for evaluation and future genetic implications. Haemoglobin E trait was diagnosed based on the retention time observed as the equipment failed to recognize the abnormal variant. One patient was on regular blood transfusion and was having beta thalassemia major haemoglobinopathy.
