What is the clinical penetrance of C282Y homozygosity?

C282Y/C282Y penetrance: ~28% of males and ~1% of females develop clinical disease (organ damage). ~70% of males develop biochemical evidence of iron loading (elevated transferrin saturation and ferritin).

How is haemochromatosis managed with phlebotomy?

Weekly phlebotomy (450–500 mL per session) until ferritin <50 µg/L and transferrin saturation <30%, then maintenance every 3–4 months. Each unit removes ~250 mg iron.

HFE Haemochromatosis C282Y Penetrance and Iron Loading

Calculate iron overload risk, clinical penetrance, and phlebotomy requirement estimates for HFE haemochromatosis genotypes (C282Y/C282Y, C282Y/H63D, H63D/H63D) based on sex, transferrin saturation, and ferritin level.

Use the full interactive calculator below, or

Related Calculators

BMI Calculator

Medical

HFE Haemochromatosis C282Y Penetrance and Iron Loading

Related Calculators

Frequently Asked Questions

What is the clinical penetrance of C282Y homozygosity?

How is haemochromatosis managed with phlebotomy?