Non-HFE hemochromatosis

Revista Brasileira de Hematologia e Hemoterapia

Paulo Caleb Júnior De Lima Santos²  Carla Luana Dinardo²  Rodolfo Delfini Cançado¹  Isolmar Tadeu Schettert²  José Eduardo Krieger²  Alexandre Costa Pereira² 

[1] ,Universidade de São Paulo Faculdade de Medicina São Paulo SP ,Brazil

关键词: Hemochromatosis;    Iron overload;    Iron metabolism disorders;   

DOI  :  10.5581/1516-8484.20120079

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
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