A comparative Clinico-hematological profile analysis of HbE beta thalassemia and homozygous HbE disease in adult and children at a tertiary care hospital

Hemoglobinopathies are classified as quantitative or qualitative decrease in production of hemoglobin. Thalassemias result from quantitative decrease of often structurally normal globin proteins. Mutations causing decrease in the synthesis of beta globins cause beta (β) thalassemia. Hemoglobin E is a β chain variant, caused by the structural change at the 26^th position where glutamic acid is replaced by lysine in the β globin. It is highly frequent in South-east Asia and is commonly found in India. Hemoglobin E beta thalassemia (HbE β thalassemia), a compound heterozygous state, result in a very variable phenotype ranging from thalassemia trait, Non Transfusion dependent Thalassemia (NTDT), to Transfusion dependent Thalassemia (TDT). Patients with Hemoglobin E disease are usually asymptomatic and result from homozygous presence of Hemoglobin E chains. In this study, fifty cases of HbE disorder involving 43 cases of HbE beta thalassemia and 7 cases of homozygous HbE disease were considered. Their Clinico-hematological highlights and results of high performance liquid chromatography (HPLC) were analyzed. The main concern remain of the Hemoglobin E beta thalassemia, in which it is difficult from HPLC results to interpret whether the patient will behave as a trait, NTDT or TDT.