Revista Brasileira de Hematologia e Hemoterapia (Jan 2012)

Non-HFE hemochromatosis

  • Paulo Caleb Júnior de Lima Santos,
  • Carla Luana Dinardo,
  • Rodolfo Delfini Cançado,
  • Isolmar Tadeu Schettert,
  • José Eduardo Krieger,
  • Alexandre Costa Pereira

DOI
https://doi.org/10.5581/1516-8484.20120079
Journal volume & issue
Vol. 34, no. 4
pp. 311 – 316

Abstract

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Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis.

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