Genetic iron overload disorders.
Mol Aspects Med
; 75: 100896, 2020 10.
Article
en En
| MEDLINE
| ID: mdl-32912773
Due to its pivotal role in orchestrating vital cellular functions and metabolic processes, iron is an essential component of the human body and a main micronutrient in the human diet. However, excess iron causes an increased production of reactive oxygen species leading to cell dysfunction or death, tissue damage and organ disease. Iron overload disorders encompass a wide spectrum of pathological conditions of hereditary or acquired origin. A number of 'iron genes' have been identified as being associated with hereditary iron overload syndromes, the most common of which is hemochromatosis. Although linked to at least five different genes, hemochromatosis is recognized as a unique syndromic entity based on a common pathogenetic mechanism leading to excessive entry of unneeded iron into the bloodstream. In this review, we focus on the pathophysiologic basis and clinical aspects of the most common genetic iron overload syndromes in humans.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sobrecarga de Hierro
Límite:
Humans
Idioma:
En
Revista:
Mol Aspects Med
Año:
2020
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Reino Unido