Sickle Cell Hemoglobin E Disorder – A Case Study in Balasore District of Odisha, India

Abstract

Hemoglobinopathies are the cause of some major genetic and social health problem in many countries including India and sickle cell disorder is one of the most debilitating genetic disease affecting a large population. Though recognized, in and as various groups of genetic mutations, double heterozygous state of sickle cell and hemoglobin E (HbSE) is uncommon in Odisha state. Due to migration and racial inter-caste marriages between the populations of different neighboring states the possibilities of detecting Hb SE disease in Odisha is rising but this rare case of Hb SE has never been reported in Balasore district so far. In the present instance, a 24 year old male was diagnosed with sickle cell hemoglobin E disorder. The case was confirmed through Hb electrophoresis, slide based sickle test, HPLC and ARMS PCR. The peripheral smear analysis showed the presence of microcytic RBC and Hypochromasia. No splenomegaly and hepatomegaly was observed. The case was mostly asymptomatic and with history of joint and bone pains once or twice per year.