Article
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
International journal of hematology - 1 Jan 2018
Kawabata Hiroshi
Abstract excerpt
Hereditary hemochromatosis (HH) is a group of genetic iron overload disorders that manifest with various symptoms, including hepatic dysfunction, diabetes, and cardiomyopathy. Classic HH type 1, which is common in Caucasians, is caused by bi-allelic mutations of HFE. Severe types of HH are caused by either bi-allelic mutations of HFE2 that encodes hemojuvelin (type 2A) or HAMP that encodes hepcidin (type 2B). HH...
Topics
- Alleles
- Cardiomyopathies
- Cation Transport Proteins
- Diabetes Mellitus
- GPI-Linked Proteins
- Hemochromatosis
- Hemochromatosis Protein
- Homeostasis
- Humans
- Iron
- Liver Diseases