Genetic mutations, diagnostic methods, and therapies related to hereditary haemochromatosis

Biotemas

Thalles Danylo Souza Colares¹  Alessandra Rejane Ericsson de Oliveira Xavier¹  Karina Marini Aguiar¹  Mauro Aparecido de Sousa Xavier¹ 

[1] Universidade Estadual de Montes Claros, Montes Claros, Brazil;

关键词: C282Y;    Iron overload;    H63D;    HFE gene;    Molecular diagnosis;   

DOI  :  

来源: DOAJ

【 摘 要 】

Hereditary haemochromatosis is a genetic disease related to various iron metabolism disorders and a major cause of iron overload. The technical and scientific advances obtained over the last decades, particularly with the development of molecular biology, have contributed to greater knowledge on iron metabolism and the main factors related to its regulation, as well as the disorders that can result in deficit or overload. The identification of some genes and their mutations has helped to understand the regulatory mechanisms responsible for maintaining the homeostasis of such an essential mineral for several biochemical processes. Thus, this review addresses aspects related to iron, its metabolism and the causes for overload, particularly that deriving from hereditary haemochromatosis. Also with regard to this disease, we present diagnosis, guidance on treatment, and most frequent mutations.

【 授权许可】

Unknown