Background: Thalassemias among hemoglobinopathies are major public health problem in India and bear financial burden on health-care systems.
Objective: To identify carriers in the families of index cases and to differentiate types of hemoglobinopathies on the basis of red cell parameters.
Materials and Methods: The study was carried out on 1,702 family members and close relatives of 242 clinically proved β-thalassemia major patients with different caste and communities. For initial diagnosis of carriers, all the samples were subjected to osmotic fragility test and red cell indices by automatic cell counter. If any abnormality were detected, further confirmatory tests were carried out by cellulose acetate electrophoresis and HPLC for estimation of HbA2. For comparative analysis of red cell indices between β-thalassemia and other hemoglobinopathies, samples of different hemoglobinopathies were collected and complete blood count was carried out.
Result: A total of 629 β-thalassemia carriers were identified among 1,702 family member tested. Hematological data revealed that, except red cell distribution width, all red cell indices were statistically significant different between β-thalassemia major and minor. Microcytosis and hypochromasia were the common features from the blood samples of β-thalassemia minor. Red cell indices from HbE disease, HbE/β-thalassemia, and HbD Punjab showed marked microcytosis. Moderate degree of microcytosis and hypochromia were seen in all cases of α-thalassemia, sickle/β-thalassemia, and HbE trait. Analysis of hemoglobin from different hemoglobinopathies revealed inconsistency in the presence of percent HbA, HbF, and HbA2. Percent HbE (HbE%) in HbE diseased, HbE/β-thalassemia, and HbE trait patients were reported in decreasing order.
Conclusion: It has been concluded that the hematological parameters such as red blood cell count, mean corpuscular volume, and mean corpuscular hemoglobin were found to be suitable for screening of large population in resource poor areas.
Key words: β-Thalassemia major, β-thalassemia minor, hypochromia, microcytosis, red cell indices