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Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Camaschella, Clara |
| Copyright Year | 2005 |
| Abstract | Genetic analysis of hemochromatosis has led to the discovery of a number of genes whose mutations disrupt iron homeostasis and lead to iron overload. The introduction of molecular tests into clinical practice has provided a tool for early diagnosis of these conditions. It has become clear that hemochromatosis includes a spectrum of disorders that range from simple biochemical abnormalities to chronic asymptomatic tissue damage in midlife to serious life-threatening diseases in young subjects. Molecular studies have identified the systemic loop that controls iron homeostasis and is centered on the hepcidin-ferroportin interaction. The complexity of this regulatory pathway accounts for the genetic heterogeneity of hemochromatosis and related disorders and raises the possibility that genes encoding components of the pathway may be modifiers of the main genotype. Molecular diagnosis has improved the classification of the genetic conditions leading to iron overload and identified novel entities, characterized by both iron loading and variable degrees of anemia. Despite the progress in the diagnosis, classification, and mechanisms of iron overload disorders, the treatment of affected patients continues to rely on regular phlebotomy. Understanding the molecular circuitry of iron control may lead to the identification of potential therapeutic targets for novel treatment strategies to be used in association with or as an alternative to phlebotomy. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.bloodjournal.org/content/bloodjournal/106/12/3710.full.pdf?sso-checked=true |
| Alternate Webpage(s) | http://bloodjournal.hematologylibrary.org/content/early/2005/07/19/blood-2005-05-1857.full.pdf |
| PubMed reference number | 16030190v1 |
| Volume Number | 106 |
| Issue Number | 12 |
| Journal | Blood |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Anemia Autosomal dominant inheritance Autosomal recessive inheritance Congenital Abnormality Genetic Heterogeneity HAMP gene Hemochromatosis Hereditary Diseases Iron Metabolism Disorders Iron Overload Ligands Mutation NEO1 gene Patients Protocols documentation Scientific Publication Soft Tissue Injuries Solute Carrier Family hepcidin iron ion homeostasis |
| Content Type | Text |
| Resource Type | Article |
