Wpływ białka HFE na metabolizm żelaza

Kaczorowska-Hać, Barbara; Kaczor, Jan Jacek

doi:10.34763/devperiodmed.20172102.8590

Abstract

Hemochromatoza typu 1 to schorzenie dziedziczone autosomalnie recesywnie, uwarunkowane mutacjami genu HFE, który jest współodpowiedzialny za kontrolę homeostazy metabolizmu żelaza. Objawy kliniczne, związane z przeładowaniem żelazem narządów wewnętrznych, takich jak wątroba, trzustka, serce, występują u osób dorosłych, głównie mężczyzn. Ekspresja fenotypowa choroby jest indywidualna, a na jej przebieg kliniczny ma wpływ szereg czynników osobniczych i środowiskowych. Znaczenie powszechnie występujących wariantów białka HFE w populacji wykracza poza klasyczną hemochromatozę narządową i dotychczas nie zostało w pełni wyjaśnione. Artykuł stanowi przegląd piśmiennictwa dotyczącego roli wariantów genu HFE w organizmie z uwzględnieniem aspektu gromadzenia żelaza w okresie rozwojowym.

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Wpływ białka HFE na metabolizm żelaza

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