Iron overload disorder
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. Organs commonly affected are the liver, heart and endocrine glands.[1]
Causes
The causes can be distinguished between primary (generally genetic) and secondary (due to other conditions).[2]
Primary iron overload
| Description | OMIM | Mutation |
| Haemochromatosis type 1: “classical”-haemochromatosis | 235200 | HFE |
| Haemochromatosis type 2A: juvenile haemochromatosis | 602390 | hemojuvelin (“HJV”, also known as HFE2) |
| Haemochromatosis type 2B: juvenile haemochromatosis | 606464 | hepcidin antimicrobial peptide (HAMP) or HFE2B |
| Haemochromatosis type 3 | 604720 | transferrin receptor-2 (TFR2 or HFE3) |
| Haemochromatosis type 4 | 604653 | ferroportin (SLC11A3) |
| Neonatal haemochromatosis | 231100 | (unknown) |
| Aceruloplasminaemia (rare disease) | 604290 | ceruloplasmin |
| Congenital atransferrinaemia (rare disease) | 209300 | transferrin |
Secondary iron overload
- Dietary iron overload
- Increased intake of drugs such as ferrous gluconate.
- Transfusional iron overload
- Long term haemodialysis
- Chronic liver disease
- Hepatitis C
- Alcoholic cirrhosis, especially when advanced
- Non-alcoholic steatohepatitis
- Porphyria cutanea tarda
- Post-portacaval shunting
- Dysmetabolic iron overload syndrome
Miscellaneous
The part-genetic, part-environmental syndrome known as African iron overload in sub-Sahara Africa (Online Mendelian Inheritance in Man (OMIM) 601195)
See also
References
- ↑ Andrews NC (1999). “Disorders of iron metabolism”. N. Engl. J. Med. 341 (26): 1986–95. PMID 10607817.
- ↑ Pietrangelo A (2003). “Haemochromatosis”. Gut. 52 Suppl 2: ii23–30. PMID 12651879.
External links
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