Doenças Genéticas com Sobrecarga de Ferro
Palavras-chave:
Ferro, HFE, hemocromatose, hepcidinaResumo
A hemocromatose hereditária tipo I é uma das doenças genéticas
mais frequentes do ser humano, estimando-se que, em média,
1:260 da população caucasiana sofre deste distúrbio. No nosso
país, é especialmente prevalente no norte. Tem contudo uma
penetrância bastante variável e manifestações clínicas variadas,
atingindo vários aparelhos e sistemas, devendo o internista estar
familiarizado com esta patologia. Juntamente com as outras
doenças genéticas hemocromatósicas, a hepcidina, o peptídeo
central regulador do metabolismo do ferro, desempenha um papel
fundamental. Fazemos uma revisão das várias doenças genéticas
associadas com sobrecarga de ferro
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Referências
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