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S D Med ; 66(1): 15, 17-8, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23342715

RESUMO

Hereditary Hemochromatosis (HH) still causes debate among health professionals regarding appropriateness of diagnostic and screening tools. The Hemochromatosis gene (HFE) was discovered in 1996 and is now recognized to cause the majority of HH cases. A C282Y missense mutation in the HFE gene causes up to 90 percent of HH cases. In northern European populations, prevalence of heterozygosity is estimated to be as high as 10 percent, with symptomatic iron overload developing in as many as one in 200 to 300. Many guidelines regarding population screening have been proposed. It is especially important to strike a balance between allocation of healthcare resources and patient well-being in areas such as South Dakota with a large northern European and high proportion of Medicare and Medicaid patient population. This article outlines a reasonable approach to diagnosis and management for primary care physicians in South Dakota centered on a prototypical case review.


Assuntos
Hemocromatose/diagnóstico , Antígenos de Histocompatibilidade Classe I/genética , Sobrecarga de Ferro/diagnóstico , Ferro/metabolismo , Proteínas de Membrana/genética , Mutação/genética , Testes Genéticos , Hemocromatose/genética , Hemocromatose/terapia , Proteína da Hemocromatose , Humanos , Sobrecarga de Ferro/genética , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Flebotomia , Médicos , Reação em Cadeia da Polimerase , Atenção Primária à Saúde , South Dakota , Resultado do Tratamento
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