Haemochromatosis — Genes & Biomarkers
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Biomarker / GeneBad ScoreFree ActionsNon-free Actions
GENES
HFEHJVHAMPTFR2SLC40A1
C282Y/C282Y homozygous
Biallelic mutations
Biallelic mutations
Biallelic mutations
Heterozygous mutation
Low-iron diet; no iron suppl.
Iron-restricted diet; no alcohol
Iron-restricted diet
Low-iron diet; no alcohol
Low-iron diet; dietary advice
Genetic testing; phlebotomy
Genetic testing; iron chelation
Genetic testing; deferoxamine
Genetic testing; phlebotomy
Genetic testing; phlebotomy
BIOMARKERS
Transferrin Sat.Serum FerritinSerum IronHepcidin
>45% (F) / >50% (M)
>200 µg/L (F) / >300 (M)
>30 µmol/L
Inappropriately low
Reduce red meat; no iron suppl.
Low-iron diet; reduce alcohol
Dietary changes; less red meat
Anti-inflammatory diet; exercise
Phlebotomy; specialist referral
Phlebotomy; liver biopsy if high
Chelation therapy; referral
Hepcidin assay; specialist care