An interesting case of compound heterozygous sickle cell- Β+ thalassaemia presenting with acute chest syndrome

Abstract

Sickle cell disease is a hereditary disorder which is caused due to a mutation in the β- globin gene. Acute chest syndrome is a rare complication which is seen in sickle cell patients in India. Here, we are presenting an interesting case of compound heterozygous Sickle cell-β+ thalassaemia who presented at the age of 20 years with acute chest syndrome and massive hepatomegaly. The patient also typically had veno-occlusive crisis. The diagnosis was based on the presence of numerous sickle cells in the peripheral smear and also on the presence of a strong HbS (68%) band on cellulose acetate electrophoresis supported by increased HbA2>3.5% and decreased cell indices. His mother was reported to have Sickle cell trait, who was asymptomatic with HbS(35.7%) and HbF (1.1%).