Hemochromatosis classification
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Hemochromatosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hemochromatosis classification On the Web |
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American Roentgen Ray Society Images of Hemochromatosis classification |
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Risk calculators and risk factors for Hemochromatosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
Classification
Recently, a classification has been developed (with chromosome locations):
| Description | OMIM | Mutation | Locus |
| Haemochromatosis type 1: "classical"-haemochromatosis | 235200 | HFE | 6p21.3 |
| Haemochromatosis type 2A: juvenile haemochromatosis | 602390 | hemojuvelin ("HJV", also known as HFE2) | 1q21 |
| Haemochromatosis type 2B: juvenile haemochromatosis | 606464 | hepcidin antimicrobial peptide (HAMP) or HFE2B | 19q13 |
| Haemochromatosis type 3 | 604720 | transferrin receptor-2 (TFR2 or HFE3) | 7q22 |
| Haemochromatosis type 4 autosomal dominant haemochromatosis (all others are recessive), gene mutation | 604653 | ferroportin (SLC11A3) | 2q32 |