Juvenile hemochromatosis
| Juvenile hemochromatosis | |
|---|---|
| Classification and external resources | |
| ICD-10 | E83.1 |
| ICD-9-CM | 275.0 |
| OMIM | 602390 606464 |
| GeneReviews | |
Juvenile hemochromatosis (or hemochromatosis type 2) is, as its name indicates, a form of hemochromatosis which emerges during youth.
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
- ↑ "GeneReviews: Juvenile Hereditary Hemochromatosis".
- ↑ 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
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