Step A

Transferrin Saturation

Greater than 50% (Female)

Greater than 60% (Male)

Not applicable

If elevated in step A, retest after overnight fast, if still elevated, look at serum ferritin

If serum Ferritin elevated, the diagnosis is very likely

Ferritin>400 ng/mL (µg/L) in men and post-menopausal women suggests hemochromatosis
Ferritin>200 ng/mL (µg/L) in pre-menopausal women suggests hemochromatosis

Yes

No

Consider liver biopsy or genetic testing or Liver MRI for confirmation
Note: If serum transferrin and ferritin levels are not definitely elevated when measured; it is unlikely that hereditary hemochromatosis is present.

Treatment:
When this diagnosis is made a diet devoid of iron, vitamin C and ethanol should be recommended.

Type I, II and III:

When serum ferritin is >400 ng/mL (males/post-menopausal females) or >200 ng/mL (pre-menopausal females), phlebotomy at 7 mL/kg weight based should be instituted
This should be done repetitively weekly until serum ferritin <=50 ng/mL (monitor for anemia)
Thereafter, every 4-6 months phlebotomy is often indicated with careful monitoring to keep serum ferritin of =50 ng/mL

May not tolerate phlebotomy due to developing anemia (may require chelation)

Typically will develop anemia and require chelation (e.g. desferoxamine)

When serum ferritin is >400 ng/mL (males/post-menopausal females) or >200 ng/mL (pre-menopausal females), phlebotomy at 7 mL/kg weight based should be instituted
This should be done repetitively weekly until serum ferritin <=50 ng/mL (monitor for anemia)
Thereafter, every 4-6 months phlebotomy is often indicated with careful monitoring to keep serum ferritin of =50 ng/mL

May not tolerate phlebotomy due to developing anemia (may require chelation)

Typically will develop anemia and require chelation (e.g. desferoxamine)

END

Hereditary hemochromatosis unlikely to be present