Coexistence of HbD and thalassemia trait, a rare phenomenon with cardiac presentation

HbD with thalassemia having cardiac presentation

Abstract

HbD is a variant of hemoglobin mainly found in north-western parts of India like Punjab and Gujarat, Pakistan, Iran and other countries. HbD arises due to genetic mutation at 121^st aminoacid residue glutamic acid which is replaced with glutamine. HbD may exist in homozygous or heterozygous forms. Patients with HbD usually remain asymptomatic during their life time. However, HbD may sometimes coexist with sickle cell disease which exhibits clinical manifestations. However, coinheritance of HbD with thalassemia is a rare possibility and is believed to have clinical presentation which is not much reported in literature. In this article we have reported a case found in Bathinda district of Punjab with coexisting HbD and thalassemia trait showing severe cardiac presentation which could be late sequelae of hemoglobinopathy owing to underlying chronic anemia. We have also proposed an algorithm which might help the clinicians and diagnostic lab experts for easy work up of hemoglobinopathies considering that availability and affordability of genetic allele testing is a major limitation in majority of clinical settings.