Juvenile hemochromatosis
Juvenile hemochromatosis is, as its name indicates, a form of hemochromatosis which emerges during youth.
| Juvenile hemochromatosis | |
|---|---|
| Other names | Hemochromatosis type 2 |
There are two forms:[1]
- "HFE2A" is associated with hemojuvelin[2]
- "HFE2B" is associated with hepcidin antimicrobial peptide[3]
Some sources only specifically include hemojuvelin as a cause of juvenile hemochromatosis.[4]
References
- "Juvenile Hereditary Hemochromatosis". GeneReviews: Juvenile Hereditary Hemochromatosis. University of Washington, Seattle. 1993.
- Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J (March 2007). "Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl". Haematologica. 92 (3): 421–2. doi:10.3324/haematol.10701. PMID 17339196.
- Rideau A, Mangeat B, Matthes T, Trono D, Beris P (January 2007). "Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis". Haematologica. 92 (1): 127–8. doi:10.3324/haematol.10545. PMID 17229647.
- "Hemochromatosis: Causes - MayoClinic.com".
External links
| Classification | |
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| External resources |
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