Hemochromatosis

Hemochromatosis is a condition where the body absorbs and stores too much iron. The most common form, hereditary hemochromatosis (HFE-related), is genetic and can lead to iron buildup in the liver, heart, pancreas, joints, and skin. Early testing matters: many people have no symptoms at first, and targeted labs can reveal iron overload before organ damage occurs.

A proactive, stepwise approach starts with iron studies—especially transferrin saturation (TS%) and serum ferritin—and, when indicated, adds HFE genetic testing (for variants such as C282Y and H63D). Your clinician may also check liver enzymes and other markers to rule out secondary causes. Lab results guide next steps but do not replace medical evaluation or imaging when needed.

Signs, Symptoms & Related Situations

• General/early: fatigue, weakness, low energy, joint stiffness (knuckles, knees)

• Skin: bronze or gray skin tone

• Liver & digestive: elevated liver enzymes, abdominal discomfort, enlarged liver

• Endocrine/metabolic: high blood sugar, thyroid changes, sexual dysfunction or low libido

• Cardiac: irregular heartbeat, shortness of breath with exertion

• Family & risk: first-degree relative with hemochromatosis, Celtic/Northern European ancestry

• Women: symptoms may appear later (menstruation and pregnancy can delay iron buildup)
  Get urgent care for severe chest pain, confusion, or signs of acute illness.

Why These Tests Matter

What testing can do

• Screen at-risk people and those with abnormal liver tests or suggestive symptoms

• Confirm HFE-related risk with genetic testing after abnormal iron studies or strong family history

• Monitor iron levels over time to help prevent organ injury

What testing cannot do

• Diagnose organ damage on its own (imaging and clinical evaluation may be needed)

• Predict exact severity from genotype alone (expression varies)

• Replace assessment for secondary causes of high ferritin (inflammation, liver disease, alcohol use, metabolic syndrome)

What These Tests Measure (at a glance)

• Transferrin Saturation (TS%) – Ratio of serum iron to TIBC; elevated TS% (often ≥45%) suggests increased iron absorption. Best drawn in the morning; fasting sample preferred for accuracy.

• Serum Ferritin – Reflects iron stores. High ferritin may indicate iron overload or inflammation/liver disease; interpret with TS% and clinical context.

• Serum Iron, TIBC/Transferrin – Components used to calculate TS%; add interpretive context.

• HFE Genetic Testing – Detects common variants (C282Y, H63D, S65C). C282Y homozygotes have the highest risk for iron overload; compound heterozygotes may have intermediate risk.

• Liver Panel (AST, ALT, ALP, GGT, bilirubin) – Assesses liver involvement and alternative explanations for high ferritin.

• Inflammation markers (e.g., CRP) – Help distinguish true iron overload from acute-phase ferritin elevation.

• Other/advanced (clinician-directed): Non-HFE gene panels (HJV, HAMP, TFR2, SLC40A1) in rare cases; imaging (e.g., MRI R2/T2** for iron quantification) arranged by your clinician.

Quick Build Guide

How the Testing Process Works

1. Order the right start: Iron studies (TS%, ferritin, serum iron, TIBC). A morning, fasting sample improves TS% accuracy.

2. Confirm when elevated: If TS% and/or ferritin are high, repeat testing and consider HFE genetic testing, especially with a family history.

3. Assess context: Your clinician may order a liver panel and inflammation markers, and review alcohol use, metabolic syndrome, hepatitis, transfusions, or supplements.

4. Review securely: Results post to your account; discuss findings with your clinician to plan next steps.

5. Monitor trends: If iron overload is confirmed, periodic ferritin (± TS%) helps track progress per your clinician’s guidance.

Interpreting Results (General Guidance)

• TS% ≥ ~45% (fasting) raises suspicion for increased iron absorption; paired elevated ferritin supports iron overload.

• High ferritin with normal TS% often points to inflammation, liver disease, alcohol use, or metabolic syndrome rather than primary hemochromatosis.

• HFE genotypes:

  • C282Y/C282Y (homozygous): highest risk for overload—requires clinical correlation.

  • C282Y/H63D (compound heterozygous): variable risk—interpret with iron studies.

  • H63D/H63D or single variants: usually low penetrance—investigate secondary causes if ferritin is high.

• Always interpret labs with a qualified healthcare professional; imaging and specialist referral may be appropriate.

Choosing Panels vs. Individual Tests

• Screening set: Transferrin saturation + Ferritin (with serum iron and TIBC).

• Confirmation: Add HFE genetic testing when iron studies are elevated or family history is strong.

• Monitoring: Ferritin (± TS%) at intervals set by your clinician.

• Rule-in secondary causes: Liver panel and CRP; targeted testing (e.g., hepatitis panels) as directed.

FAQs

Do I need to fast for these tests?
A fasting morning sample is preferred for TS%. Follow the instructions on your order.

Can supplements affect results?
Yes. Iron and high-dose vitamin C can influence iron studies. Follow any hold instructions on your order and tell your clinician what you take.

My ferritin is high—does that mean I have hemochromatosis?
Not necessarily. Inflammation, liver disease, alcohol use, and metabolic syndrome can raise ferritin. TS% and context help clarify.

If my HFE test is normal, could I still have iron overload?
It’s possible. Rare non-HFE forms exist, and secondary causes can raise iron. Your clinician will guide further work-up.

Should family members be tested?
First-degree adult relatives of people with confirmed HFE hemochromatosis may consider iron studies and/or HFE testing after discussing with a clinician.

Can women develop hemochromatosis?
Yes. Iron buildup may appear later due to menstrual blood loss and pregnancy, but women can still develop overload.

Related Categories & Key Tests

• Genetic Disorder Tests Hub

• Iron Excessive (Hemochromatosis) • Iron Deficiency Anemia Tests • Liver Panel • Blood Chemistry Tests • General Health Tests

• Key Tests: Transferrin Saturation • Ferritin • Serum Iron • TIBC/Transferrin • HFE Genetic Test (C282Y, H63D, S65C) • Liver Panel (AST/ALT/ALP/GGT/Bilirubin) • CRP

References

• American Association for the Study of Liver Diseases (AASLD) — Practice guidance on hereditary hemochromatosis.
• European Association for the Study of the Liver (EASL) — Clinical Practice Guidelines: Haemochromatosis.
• British Society for Haematology — Guidelines on investigation and management of genetic haemochromatosis.
• American College of Gastroenterology — Hereditary Hemochromatosis clinical guideline.
• CDC — Hemochromatosis overview and public health information.
• NIH Genetic and Rare Diseases (GARD) — HFE hemochromatosis.
• Review articles on ferritin interpretation and secondary hyperferritinemia..

Do you have iron overload?

The hemochromatosis blood test can identify the hereditary hemochromatosis DNA mutation gene, that causes excess iron to accumulate.

Hereditary Hemochromatosis is a genetic disorder that causes the body to absorb too much dietary iron. This excess iron can damage organs and tissues, especially the liver and heart. The disease is most common in people of Northern European descent (Caucasians). Symptoms may not appear until adulthood or later, but early diagnosis and treatment are important to prevent serious complications. If left untreated, HH can lead to cirrhosis of the liver, diabetes mellitus, arthritis-like joint pain (due to deposition of excess iron in joints), impotence/infertility (in men), heart failure (in both sexes), and other organ damage.

Do you have a family history of Hemochromatosis?

If you or a loved one has been diagnosed with Hemochromatosis, it's important to know if other family members are also affected by this disease. The Hereditary Hemochromatosis DNA Mutation Analysis test can help determine whether someone is at risk for developing this condition and who may need early screening and treatment to prevent serious complications from this disease.

Get tested today! It's easy to order online and get your results quickly! We offer fast turnaround times and provide you with a detailed report of the results typically within 1 to 2 business days of your specimen collection.

Your test results will tell you if you have hereditary Hemochromatosis with just one simple blood draw from your arm! We'll send you notifications directly to your email when your results are available to view on your secure and confidential patient portal, so there's no waiting around for them – we want you healthy as soon as possible!

Order the Hereditary Hemochromatosis DNA Mutation Analysis test now!

Available Tests & Panels

Your Hemochromatosis Tests menu is pre-populated in the Ulta Lab Tests system. Use filters to select iron studies(TS%, ferritin, iron, TIBC), add HFE genetic testing when appropriate, and include liver panel/CRP for context. Schedule a draw (preferably fasting in the morning) and review results with your clinician to decide on confirmation and monitoring steps.