Hemochromatosis classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Hemochromatosis is divided on basis of it's etiology. Hereditary hemochromatosis is caused by defect in gene and secondary hemochromatosis is caused by excess absorption of iron, repeated blood transfusions, or excess oral intake, typically in patients with disorders of erythropoiesis.
Classification
Hemochromatosis can be classified on basis of mode of entry of iron source:
Entral:
The entral source of hemochromatosis is hereditary hemochromatsis. Hereditary hemochromatosis is an autosomal recessive disorder having genetic mutation that affect HFE proteins that limit the entry of iron into the blood by regulating hepcidin, the primary iron regulatory hormone.
Paraentral:
Paraentral haemochromatosis refers to patients who get multiple blood transfusions.
Placental:
Placental haemochromatosis/Neonatal hemochromatosis to condition in which fetus has deposited iron in it's hepatic and or extra-hepatic tissue pathologically. It is unclear what is the cause this condition.
| 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 |