Type | Mutated protein | Clinical picture | |
---|---|---|---|
1 | Classic haemochromatosis | HFE | Classic |
2A | Juvenile haemochromatosis | Haemojuvelin | Onset of symptoms when aged < 30 years |
2B | Juvenile haemochromatosis | Hepcidin | Onset of symptoms when aged < 30 years |
3 | Haemochromatosis | Transferrin receptor 2 | Classic |
4B | Haemochromatosis | Ferroportin | Classic |
4A | Haemochromatosis | Ferroportin | Macrophage iron deposits |
5 | Aceruloplasminaemia | Ceruloplasmin | Anaemia, neurological symptoms |
Symptoms | Clinical findings | Laboratory examinations and findings |
---|---|---|
Source: Arkkila P, Åberg F, Arola J, Nieminen U. Hemokromatoosi - yleisin perinnöllinen maksasairauden aiheuttaja [Hemocromatosis - the most common hereditary cause of liver disease]. Finnish Medical Journal Duodecim 2018;134(24):2444-53. http://www.duodecimlehti.fi/duo14678 | ||
Fatigue Feeling of weakness Weight loss Apathy Joints
| Joints
| Blood
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