Diagnosis of Hereditary Hemochromatosis
Disorder | Genetic Defect | Ferritin Level (ng/mL [mcg/L]) | Transferrin Saturation (%) | Clinical Features |
|---|---|---|---|---|
Hereditary hemochromatosis type 1 | HFE | Elevated | Elevated | Adult onset, liver damage and arthritis |
Hereditary hemochromatosis type 2 | HJV or HAMP | Elevated | Elevated | Early onset (< 30 years), cardiac and endocrine abnormalities |
Hereditary hemochromatosis type 3 | TRF | Elevated | Elevated | Very rare, similar to type 1 but earlier onset |
Hereditary hemochromatosis type 4 | SLC40A1 | Elevated | Low/normal | Adult onset, increased splenic iron |
Data from Girelli D, Busti F, Brissot P, Cabantchik I, Muckenthaler MU, Porto G. Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood 2022;139(20):3018-3029. doi:10.1182/blood.2021011338 | ||||