A CASE REVIEW OF SICKLE CELL WITH BETA THALASSEMIA

Dr. Hashiq N.*, Dr. Ramesh Nigade, Dr. Yamini S., Dr. Saiprasad Kavthekar, Dr. Anil B. Kurane

ABSTRACT

Interaction of Hb S with beta thalassaemia is a very rare case, that has been reported in our institution. Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the -globin gene on chromosome 11. which result in to a single amino acid substitution (β6 glu→val). 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. Sickle-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature. We describe a patient who presented with fever and abdominal pain with a negative family history for sickle cell disease. The HPLC report of the patient showed Compound heterozygous for Hb S- β thalassaemia. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.

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