Haemoglobin S Interaction with Beta Thalassaemia- A Case Report from Assam, India

Abstract

Interaction of Hb S with beta thalassaemia is being reported here as this type of case is rare. Hb S (β6 glu→val) is a genetic disorder which occurs due to beta globin gene mutation of haemoglobin. In India, the Hb S is prevalent in the central part, in the eastern, western and southern tribal belt regions and among the tea tribe communities of Assam. The Hb S carriers (Sickle cell trait) leads a normal life but the Sickle cell disease patients show certain clinical manifestation like joint pain, anaemia and jaundice. The HPLC report of the patient showed Compound heterozygous for Hb S- β thalassaemia. The complete blood count was measured in automated haematology analyser. Mutational pattern of the beta thalassaemia as well as the presence of Hb S gene was detected by PCR. The case showed severe clinical manifestations and transfusion was required due to inheritance of the IVS 1-5 G →C β- thalassaemia mutation with the Hb S gene.