Article
Hereditary spherocytosis associated with mutations in HFE gene.
Annals of hematology - 1 Dec 2003
Montes-Cano M A, Rodríguez-Muñoz F, Franco-Osorio R, Núñez-Roldán A, González-Escribano M F
Abstract excerpt
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...
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