HFE hemochromatosis: an overview about therapeutic recommendations

Hematology, Transfusion and Cell Therapy

Aline Morgan Alvarenga¹  Paulo Caleb JL Santos¹  Rodolfo D. Cancado² 

[1]Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil

[2]Irmandade da Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil

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

DOI  :  

来源: DOAJ

【 摘 要 】

Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead to this phenotype. In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce.

【 授权许可】

Unknown