Double heterozygous for hemoglobin E and Beta thalassemia: A case study

Abstract

Haemoglobinopathies and thalassemias are inherited conditions, being diagnosed with increasing prevalence in India. An accurate diagnosis of β-thalassemia carriers, homozygous patients, double heterozygous patients and identification of different structural hemoglobin variants is important for epidemiological studies as well as for management and prevention of the major hemoglobin disorders. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive diagnosis and management of such patients. This case was clinically labelled as Thalassaemia intermedia and was confirmed as Double heterozygous for HbE and Thalassaemia. Family study was also done.