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Haemoglobin E/Beta-Thalassemia: A case report from west Maharashtra, India

Author: 
Dr. Smita Pudale, Dr. Sachin Digambar Tonape, Dr. G. A. Pandit and Dr. Bapurao Pawar
Subject Area: 
Life Sciences
Abstract: 

Haemoglobin E- Beta thalassaemia is the commonest form of severe thalassaemia in many Asian countries 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 beta-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. This paper reports a case with Hb E- Beta thalassemia from West Maharashtra

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