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- Title
Hereditary spherocytosis associated with mutations in HFE gene.
- Authors
Montes-Cano, M. A.; Rodríguez-Muñoz, F.; Franco-Osorio, R.; Núñez-Roldán, A.; González-Escribano, M. F.; Rodríguez-Muñoz, F; Núñez-Roldán, A; González-Escribano, M F
- Abstract
We report on a Spanish family in which three members of different generations were diagnosed with hereditary spherocytosis (HS). Additionally, one of them II-I (44-years-old), presented iron overload with hepatic deposit and needed treatment with periodic phlebotomies. The rest of the family members presented normal analytical values in iron metabolism. To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. We propose a synergistic effect of HS and mutations in HFE as the cause of the iron deposits.
- Subjects
HEMOCHROMATOSIS; GENETIC mutation; GENETICS; PIGMENTATION disorders
- Publication
Annals of Hematology, 2003, Vol 82, Issue 12, p769
- ISSN
0939-5555
- Publication type
journal article
- DOI
10.1007/s00277-003-0733-y