Haemoglobin S Interaction with Beta Thalassaemia- A Case Report from Assam, India
FD15-FD16
Correspondence
Dr. Mauchumi Saikia Pathak,
Professor, Department of Biochemistry, Gauhati Medical College & Hospital, Narkasur Hill top, Guwahati-781032, Assam, India.
Phone: 9435733878, E-mail : mauchumip@gmail.com
Interaction of Hb S with beta thalassaemia is being reported here as this type of case is rare. Hb S ( ß 6 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- ß thalassaemia. The complete blood count was measured in automated haematology analyser. Mu - tational 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 ß - thalassaemia mutation with the Hb S gene.