A rare case of compound heterozygous B-thalassemia and hereditary persistence of fetal hemoglobin with Moya-Moya disease

Abstract

Beta thalassemia with hereditary persistence of fetal hemoglobin (HPFH) is a rare disease with a clinical presentation different from thalassemia major and HPFH. The association of HPFH with beta-thalassemia mitigates the clinical manifestations which vary from a normal state to beta-thalassemia intermedia. HPFH is due to deletions in the beta-globin gene cluster or point mutations in the HBG1 and HBG2 genes (11p15.5). We are reporting a case of 6 year male child with compound heterozygous for HPFH and beta Thalassemia with Moya-moya disease. Elder sister was also compound heterozygous for HPFH and beta Thalassemia intermedia. Father was having beta Thalassemia trait and mother having HPFH.