Blood tests for hemochromatosis
For people with hereditary hemochromatosis or other iron overload, including people having regular blood removal (phlebotomy) to lower iron, and their close relatives.
10 tests explainedAI-verified against cited sources. Awaiting expert reviewLast reviewed 2026-10-19
Hereditary hemochromatosis makes the body absorb too much iron, which builds up mainly in the liver. Transferrin saturation and ferritin are the core blood tests, and the HFE gene test shows the usual inherited cause. Liver enzymes and platelets help judge whether the liver has been affected. During phlebotomy, ferritin and hemoglobin are checked regularly to guide the pace of treatment.
The tests that matter most
Most important first. Each one links to its full page, where the note for this group sits near the top.
Transferrin Saturation
Raised transferrin saturation is the hallmark of hemochromatosis. ACG calls it the preferred first test and notes that fasting isn't needed for it, though a few people, such as younger people early in the condition, can still have results below the usual threshold.
Sources: American College of Gastroenterology (2019) and EASL (2022)
- Usual adult range
- 15–55 %
Ferritin
Ferritin shows how much iron is stored and is the main number followed during treatment. Fatty liver, alcohol-related liver disease, hepatitis C and inflammation can raise it too, so a high ferritin alone doesn't mean iron overload.
Sources: American College of Gastroenterology (2019) and EASL (2022)
- Men, 20–59
- 30–400 ng/mL
- Men, 60+
- 31–409 ng/mL
HFE C282Y
About 80% of people of European origin with hemochromatosis have two copies of C282Y, EASL notes. ACG also counts one C282Y plus one H63D, while EASL asks for more proof for that pairing, such as liver iron on MRI. ACG recommends screening family members, especially first-degree relatives.
Sources: EASL (2022) and American College of Gastroenterology (2019)
HFE H63D
ACG advises that people with H63D and no C282Y be told they are not at higher risk of iron overload. H63D matters mainly when it comes with one copy of C282Y.
Hemoglobin
Each phlebotomy removes red cells, so hemoglobin is checked at each session. ACG checks it before and during treatment to make sure it stays above 11 g/dL. EASL suggests fewer sessions when it is below 12 g/dL and a pause below 11 g/dL.
Sources: American College of Gastroenterology (2019) and EASL (2022)
- Men, 16+
- 13–17.7 g/dL
- Women, 16+
- 11.1–15.9 g/dL
Alanine Aminotransferase (ALT)
Iron builds up mainly in the liver, so liver enzymes are part of the first workup. EASL notes that with ferritin under 1,000 µg/L (the same as 1,000 ng/mL), normal liver enzymes and no enlarged liver, the chance of advanced liver scarring is very low.
Source: EASL (2022)
- Men, 18+
- 0–44 U/L
- Women, 18+
- 0–32 U/L
Aspartate Aminotransferase (AST)
AST is read with ALT. ACG notes that in people with two copies of C282Y, a ferritin above 1,000 ng/mL together with raised liver enzymes and a low platelet count is strongly linked to cirrhosis, which is why these are looked at together when the condition is found.
- Men, 14+
- 8–48 U/L
- Women, 14+
- 8–43 U/L
Platelet Count
ACG reads the platelet count together with ferritin and liver enzymes to judge the chance of liver scarring when hemochromatosis is first found. A low count is part of the combination it links to cirrhosis.
- Usual adult range
- 150–450 ×10³/µL
Folate (Vitamin B9), Serum
EASL advises checking folate from time to time in people with hemochromatosis, especially those who need many phlebotomies.
Source: EASL (2022)
- Usual adult range
- 3 and above ng/mL
Vitamin B12 (Cobalamin)
EASL advises checking vitamin B12 from time to time in people with hemochromatosis, especially those who need many phlebotomies.
Source: EASL (2022)
- Usual adult range
- 232–1,245 pg/mL
Ranges shown are the usual adult ranges labs print. The range on your own report is the one your result is judged against.
Getting results you can compare
- In the first phase of treatment, ACG suggests checking ferritin monthly until the goal is reached. EASL suggests monthly or after every fourth session, then every one or two sessions once ferritin falls below 200 µg/L (200 ng/mL).
Sources: American College of Gastroenterology (2019) and EASL (2022)
- In maintenance, EASL suggests checking ferritin every 6 months. It notes that sudden swings in ferritin or transferrin saturation are not typical of hemochromatosis and are worth looking into.
Source: EASL (2022)
- NIDDK notes that doctors may use ferritin to see whether iron levels are improving with treatment, which is why a record of ferritin over time is useful.
Source: NIDDK (2020)
Good to know
- Guidelines word their ferritin goals a little differently. ACG aims for 50 to 100 ng/mL in the first phase of phlebotomy and near 50 ng/mL in maintenance. EASL aims for 50 µg/L, but not lower, in the first phase, and 50 to 100 µg/L, with some flexibility, in maintenance. Ferritin in ng/mL and in µg/L is the same number. The goal your care team sets is the one to track.
Sources: American College of Gastroenterology (2019) and EASL (2022)
- Transferrin saturation can stay high even when ferritin is on target, and EASL notes there are no evidence-based targets for it.
Source: EASL (2022)
- Not everyone with two copies of C282Y becomes ill from iron. In one study EASL cites, of people aged 40 to 69 followed for about 12 years, iron-related disease developed in 28% of men and about 1% of women with this genotype, though most had a raised ferritin at the start.
Source: EASL (2022)
Questions you could ask
- What ferritin level are we aiming for, and how often will we check it?
- At what hemoglobin level would we space out or pause sessions?
- Do my liver tests and platelets suggest any liver scarring?
- Should my parents, siblings or children be tested?
- How often should my folate and B12 be checked?
Sources
- ACG Clinical Guideline: Hereditary Hemochromatosis, American College of Gastroenterology (2019)
- EASL Clinical Practice Guidelines on haemochromatosis, EASL (2022)
- Diagnosis of Hemochromatosis, NIDDK (2020)
AI-verified against cited sources. Awaiting expert review. Last reviewed 2026-10-19. How we build and check these pages.
Educational information, not medical advice. Blood Test Tracker doesn’t diagnose or treat, and it doesn’t replace your clinician. Talk with your clinician before changing medications, supplements or care.