Juvenile hemochromatosis
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| Juvenile hemochromatosis Classification and external resources |
|
| ICD-10 | E83.1 |
|---|---|
| ICD-9 | 275.0 |
| OMIM | 602390 606464 |
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]
[edit] References
- ^ Juvenile Hereditary Hemochromatosis -- GeneReviews -- NCBI Bookshelf.
- ^ 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. 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. PMID 17229647.
- ^ Hemochromatosis: Causes - MayoClinic.com.
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