Haemochromatosis - mint a vastúlterheléssel járó betegségek egyik formája

Translated title of the contribution: Hemochromatosis: One form of iron-overload diseases

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2 Citations (Scopus)


Iron-overload diseases are typically insidious, causing progressive and irreversible organ injury before clinical symptoms develop. Some iron-overload diseases as HFE-associated hemochromatosis and beta-thalassemia are quite common, whereas others are very rare. Early diagnosis is important since iron toxicity can be attenuated or prevented. Significant progress of our knowledge on iron metabolism developed in the past years. We learned a lot about HFE gene mutations, function of ferroportin and hepcidin, the hypoferremia hormone produced by the liver. However, many questions are still open. Special forms of localized iron overload are the Hallervorden-Spatz syndrome and pantothenate kinase gene mutation associated neurodegeneration causing progressive extrapyramidal movement disorders. Neonatal hemochromatosis is a severe systemic iron-overload disorder due to gestational alloimmune liver disease caused by transplacental maternal IgG directed against the fetal liver. This review article gives an overview on iron metabolism and iron-overload disease. Pathomechanism, diagnosis and treatment of hereditary hemochromatosis are discussed. Orv. Hetil., 2013, 154, 1156-1164.

Translated title of the contributionHemochromatosis: One form of iron-overload diseases
Original languageHungarian
Pages (from-to)1156-1164
Number of pages9
JournalOrvosi hetilap
Issue number29
Publication statusPublished - Jul 1 2013

ASJC Scopus subject areas

  • Medicine(all)

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