Pb42 Hereditary Spherocytosis With Beta Thalassemia Trait: Case Report and Review of Literature.

Introduction: Hereditary spherocytosis (HS) is a inherited non-immune haemolytic anemia caused due to a spectrum of membrane protein defects that reduce the red cell deformability and Thalassemia is an autosomal recessive disorder characterised by a mutation or deletion of either the α or β- globin gene. The co- existence of HS and BTT is extremely rare and the reported cases on this combination are very few, with most of EPB42 related HS being reported from Japan. The clinical behaviour and the interaction between these two diseases when they co- exist are still unclear. Here, we have described one case of co-existence of HS and BTT diagnosed by specialised laboratory ndings. Case Presentation: A ve year old male child with severe anemia requiring multiple transfusions was referred to our hospital with complaints of fever and lethargy. He had pallor and jaundice with non-palpable liver and spleen. Complete blood count showed severe microcytic hypochromic anemia with Mentzer index=14.6. HPLC was performed which revealed increased HbA2 (4.1%). On Peripheral smear of the mother's blood many microspherocytes were seen . The chromatogram was normal for the mother. Molecular test to conrmed the presence of HS in the child in coexistence with BTT. EPB4 Discussion: 2-associated hereditary spherocytosis is responsible for 40%-50% of hereditary spherocytosis in Japan. Few cases of EPB42- associated hereditary spherocytosis have been reported outside Japan while no case has been reported from India. Most of the cases with co-existing HS and hemoglobinopathy comprise of ankyrin, spectrin or band 3 mutations.