Abstract
The hemoglobinopathies are a very heterogeneous group of congenital hemolytic anemias. They include thalassemias, hemoglobin variants and hereditary persistence of fetal hemoglobin. Beta-thalassemia is the most common monogenic disorder in India. Molecular characterization of this disease has revealed an extremely heterogeneous picture.
1592 blood samples from suspected cases were studied using high performance liquid chromatography, amplification refractory mutation system polymerase chain reaction and reverse dot blot techniques.
Out of 1592 cases, we found 119 cases of beta-thalassemia major, and 347 cases of beta-thalassemia trait. In addition to this, cases with structural variants like sickle cell anemia, sickle cell trait, D-thalassemia (Hb DD), E-thalassemia (Hb EE), double heterozygotes and the hereditary persistence of fetal hemoglobin were also found. Molecular analysis revealed the presence of different beta-thalassemia mutations in the population under study.
Molecular analysis revealed that IVS1-5(G-C) and 619 bp deletion are the most common mutations in the population under study. The knowledge about the frequency of predominant mutations in the present population helps in offering prenatal diagnosis to the families having fetus at risk.