title: Hereditary spherocytosis associated with mutations in HFE gene.
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.
authors.affiliation: Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: Montes-Cano
authors.forename: F
authors.initials: F
authors.lastname: Rodríguez-Muñoz
authors.forename: R
authors.initials: R
authors.lastname: Franco-Osorio
authors.forename: A
authors.initials: A
authors.lastname: Núñez-Roldán
authors.forename: M F
authors.initials: MF
authors.lastname: González-Escribano
mesh_terms: D000328:Adult; D005190:Family; D005260:Female; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013103:Spherocytosis, Hereditary / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins