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Hereditary hemochromatosis in a University Hospital, Faculty of Medicine of Ribeirão Preto (2000-2012)

Grant number: 12/09590-2
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): October 01, 2012
Effective date (End): September 30, 2013
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Ana de Lourdes Candolo Martinelli
Grantee:Murilo Marques Veronez
Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

Hereditary hemochromatosis is the most common genetic disease among individuals with European ancestry. Two mutations, C282Y and H63D in the HFE gene are associated with HH. Approximately 85-90% of patients of European descent with HH are homozygous for C282Y. In Brazil, this percentage is unknown because of the great miscegenation. The objectives of this study are to identify individuals with diagnostic criteria for HH among patients with hemochromatosis treated at the Hospital das Clinicas - FMRP - USP from 2000 to 2011 and assess the prevalence of HFE gene mutations.(AU)

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