Open AccessHaemoglobin S Interaction with Beta Thalassaemia- A Case Report from Assam, India
Author(s) -
Mauchumi Saikia Pathak,
Monalisha Saikia Borah,
Dulal Kalita
Publication year - 2014
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2014/9146.4879
Subject(s) - beta thalassaemia , jaundice , beta thalassemia , medicine , gene , mutation , thalassemia , disease , sickle cell trait , genetics , pediatrics , biology
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.