OTHER MUTANTS
A: The following types of primary iron overload are associated with hepcidin:
Autosomal recessive:
1: Haemochromatosis associated with mutations in the HFE – gene in chromosome 6.
- C282Y homozygous
- C282Y/H63D compound heterozygous
2: Juvenile hereditary iron overload; mutation in the Hemojuvelin – gene in chromosome 1 or mutation in Hepcidin AntiMicrobial Peptide in chromosome 19.
- mutation in HJV
- mutation in HAMP
3: Hereditary iron overload; mutations in the TfR2 – gene in chromosome 7.
Autosomal dominant:
4: Hereditary iron overload; mutations in the Ferroportin (SLC11A3) – gene in chromosome 2.
Normal and HFE-mutant iron absorption
B: Other types of primary iron overload (rare diseases):
- Aceruloplasminaemia
- Congenital atransferrinaemia