Haemoglobin E β +-Thalassaemia. A case report from Bijapur, South India.

Abstract

Haemoglobin E β-thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for its clinical diversity, or its optimal management. In India; it is prevalent in North-Eastern region, but relatively rare in the rest of the country. Identification of this Hb variant thalassemia is important, because doubly heterozygous state for HbE and β-thalassemia is characterized clinically by thalassemia major. Manifestations of E-beta thalassemia include refractory anemia, splenomegaly and sometimes, unexplained Jaundice. In addition these patients have additional complications like iron overload, hypercoagulable states (post-splenectomy), pulmonary hypertension and cardiopulmonary disease .Thus the affected individual may be symptomatic and transfusion dependent at an early age. Recent studies indicate 40% of patients will clinically improve with hydroxyurea. This paper reports a case with Hb E β+-thalassemia from Bijapur in South India.