A rare case of compound heterozygous B-thalassemia and hereditary persistence of fetal hemoglobin with Moya-Moya disease
Journal Title: Journal Of Pediatric Critical Care - Year 2017, Vol 4, Issue 3
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.
Authors and Affiliations
Ashok Gupta, Priyanshu Mathur, Manish Sharma, Vimesh Parmar
Keywords
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- EP ID EP336176
- DOI 10.21304/2017.0403.00208
- Views 86
- Downloads 0
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