Ulta Lab Tests

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

Scenario Start with Add if needed
Initial screen / abnormal LFTs TS% • Ferritin • Serum iron + TIBC Liver panel • CRP
Strong family history TS% • Ferritin HFE genetic test
Confirming diagnosis TS% • Ferritin HFE genetic test • Liver panel
Monitoring known overload Ferritin ± TS% Liver panel (trend)
Ferritin high, TS% normal Repeat ferritin • CRP • Liver panel Evaluate secondary causes with clinician

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.

 

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The Hereditary Hemochromatosis DNA Mutation Analysis evaluates mutations in the HFE gene that contribute to hereditary iron overload. Abnormal results may explain unexplained fatigue, liver dysfunction, joint issues, or heart disease. This test supports assessment of genetic predisposition, metabolic balance, and systemic conditions caused by excess iron accumulation and hemochromatosis-related complications.

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The Comprehensive Metabolic Panel (CMP) Test measures 21 markers to assess metabolic health, liver and kidney function, and electrolyte balance. It includes glucose, calcium, sodium, potassium, chloride, CO2, albumin, globulin, A/G ratio, total protein, bilirubin, ALP, AST, ALT, BUN, creatinine, BUN/creatinine ratio, and eGFR. The CMP helps detect diabetes, liver or kidney disease, and supports routine screening and chronic condition monitoring.

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Also Known As: CMP Test, Chemistry Panel Test, Chem Test, Chem 21 Test, Chem 14 Test 
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The Ferritin Test measures ferritin, a protein that stores iron in the body, to evaluate iron levels and detect deficiency or overload. It helps diagnose anemia, iron deficiency, hemochromatosis, and chronic disease-related inflammation. Doctors often order the ferritin test to investigate fatigue, weakness, or unexplained symptoms. It is also used to monitor iron supplementation, treatment effectiveness, and overall iron metabolism health.

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Also Known As: Iron Storage Test
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The Ferritin, Iron and Total Iron Binding Capacity Panel evaluates ferritin, total iron, TIBC, and % iron saturation to understand iron balance and storage. It helps identify anemia, iron deficiency, or overload that may affect energy, red blood cell production, and overall wellness.

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The Hepatic Function Panel Test measures liver enzymes, proteins, and bilirubin to assess liver health and function. It includes ALT, AST, ALP, albumin, total protein, and bilirubin levels. Abnormal results may indicate hepatitis, cirrhosis, fatty liver, or bile duct problems. Doctors use this test to investigate jaundice, nausea, abdominal pain, or fatigue and to monitor liver disease, alcohol use, or medication side effects affecting liver function.

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Also Known As: Liver Function Panel Test, LFT
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The Liver Function Panel, also known as a Hepatic Function Panel, measures proteins, enzymes, and bilirubin to assess liver health and function. It helps detect liver disease, monitor liver conditions, and evaluate the effects of medications or other factors on liver performance.

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Also Known As: Hepatic Function Panel Test, HFP Test
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The Iron Total and Total Iron Binding Capacity (TIBC) Test measures iron levels in blood along with the blood’s ability to transport iron. It helps diagnose iron deficiency anemia, iron overload (hemochromatosis), and monitor nutritional or chronic health conditions. Low iron or high TIBC may indicate anemia, while high iron or low TIBC can suggest overload. Doctors use this test to evaluate fatigue, weakness, or other symptoms linked to iron and metabolic health.

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Also Known As: Serum Iron Test, Total Iron Binding Capacity Test, TIBC Test, UIBC Test
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The Iron Micronutrient Test measures blood iron levels to evaluate nutritional status and detect deficiencies or excess. Iron is essential for hemoglobin production, oxygen transport, energy metabolism, and immune function. This test helps identify anemia, iron overload, absorption issues, or dietary imbalances, supporting diagnosis and management of overall health and vital body functions.

Patient must be 18 years of age or older.
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Also Known As: Serum Iron Test, Serum Fe Test
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The Iron Total Test measures iron levels in blood to evaluate nutritional status, red blood cell production, and overall metabolic health. Abnormal levels may indicate iron deficiency anemia, chronic blood loss, or poor absorption, while high levels may suggest hemochromatosis, liver disease, or iron overload. Doctors use this test to investigate fatigue, weakness, or pallor and to monitor treatment. Results provide key insight into anemia and iron balance.

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Also Known As: Serum Iron Test, Serum Fe Test
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The Mineral Micronutrients Test Panel measures minerals: Calcium, Chromium, Copper, Iron, Magnesium RBC, Manganese, Molybdenum, Selenium, and Zinc to assess nutritional balance and overall health. These minerals are essential for bone strength, metabolism, energy production, antioxidant defense, and immune function. The panel helps detect deficiencies, excesses, or absorption issues, guiding health management.

Patient must be 18 years of age or older.
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The Transferrin Test measures transferrin, a blood protein that transports iron, to evaluate iron status and nutritional health. High levels may suggest iron deficiency anemia, while low levels may indicate liver disease, malnutrition, or chronic illness. Doctors use this test alongside iron and TIBC to investigate fatigue, weakness, or anemia symptoms. Results provide vital insight into iron balance, red blood cell production, and overall metabolic function.

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What You Need to Know about Hemochromatosis (Iron Accumulation) and Lab Testing

Hemochromatosis is a blood disorder that causes the body to accumulate more iron than it needs. This is an iron metabolism disorder that may be acquired or inherited. Because the human body does not have the ability to excrete excess iron, a progressive build-up of iron occurs in the tissues and organs. Eventually, this causes an iron overload that can lead to life-threatening conditions that cause the dysfunction and failure of vital organs in the body, notably the liver, heart, and the endocrine portion of the pancreas. 

Complications of hemochromatosis include: 

  • Arthritis 
  • Liver cirrhosis 
  • Diabetes 
  • Heart arrhythmias 
  • Heart failure 
  • Increased skin pigmentation (bronzing) 

Types of Hemochromatosis

There are two types of hemochromatosis: Primary or Inherited Hemochromatosis, that is passed on from generation to generation; Secondary Hemochromatosis that is caused by another disease or underlying condition in the body. 

  • Primary or Inherited Hemochromatosis (HH) 

Inherited hemochromatosis is thought to be caused by a mutation in the HFE gene that controls the amount of iron absorbed by the body from food and is passed on from parents to children. Each person inherits 2 copies of this gene – one from their father and one from their mother.  

These mutations cause changes to occur in the building blocks of proteins called amino acids and are commonly referred to according to the amino acid changes they induce. There are 2 common mutations in the HFE gene – C282Y and H63D. For example, C282Y is one of the most common mutations that involve the change of the amino acid cysteine (C) into tyrosine (Y) that occurs in the 282nd amino acid of the protein created by the HFE gene. This is the most common type of hemochromatosis. 

In the United States, it is one of the most common genetic disorders that affect more than one million people, mostly Caucasians. The probability of iron overload in the body will depend on the combination of inherited genes. Genetic testing can be done to find out whether you have mutations in your HFE gene that can increase your risk of hemochromatosis. 

  • Secondary or Acquired Hemochromatosis 

This type of hemochromatosis is caused by an acquired iron overload due to certain other diseases and conditions that include the following: 

  • Alcohol abuse 
  • Excessive oral iron supplementation (rarely) 
  • Multiple blood transfusions 

Signs and Symptoms 

Not everyone who has the disorder will have signs and symptoms and, though estimates vary, according to the National Heart, Lung & Blood Institute, as many as half of those may not have any initial symptoms. Symptoms tend to be like those of other conditions and take a long time before they emerge and increase in severity. 

Inherited hemochromatosis is present at birth, but symptoms often only appear later in life, usually after the age of 60 in women and 40 in men. Symptoms in women are more likely to appear after menopause when the body no longer loses iron due to menstruation and pregnancy. Early symptoms of hereditary hemochromatosis can be difficult to diagnose as stiff joints and fatigue may be caused by other underlying conditions. 

The severity of signs and symptoms of hemochromatosis may vary from person to person but usually include: 

-Weakness and fatigue 

  • Joint pain 
  • Abdominal pain 
  • Liver dysfunction or abnormal liver blood tests 
  • Increased blood glucose levels 
  • Lack of menstruation in women 
  • Decreased sex drive or erectile dysfunction in men 
  • Hypothyroidism (low thyroid hormone levels) 
  • Changes in skin color e.g., turning bronze or grey 

Testing for Hemochromatosis 

Tests can be carried out to evaluate the severity of iron overload in body organs and to detect and diagnose hemochromatosis. Genetic testing can be used to confirm a diagnosis; however, since most people never develop any symptoms, the most reliable method of diagnosis is blood tests. 

Laboratory tests usually include the following: 

  • Serum iron testing to determine iron levels in the blood 
  • TIBC (total iron-binding capacity) testing to measure the total amount of iron that can bond to proteins in the blood; this is a good indirect measurement of the availability of the primary iron-building protein transferrin. 
  • Transferrin saturation is a calculation derived from the results of the iron and TIBC tests that represent the percentage of transferrin in the body saturated with iron. Transferrin saturation is elevated in people with HH (hereditary hemochromatosis) but is not specific to it. 
  • Ferritin testing is used to evaluate the iron stores in the body; ferritin levels may be elevated in hereditary hemochromatosis but not specific to it. Normal levels of ferritin in those with HH gene mutations indicate a low risk that organ damage will develop. 
  • Liver Panel is a group of tests that evaluates liver function. 
  • Liver Biopsy is done to determine the extent of damage to the liver; the examination of a liver biopsy specimen is not usually needed to confirm a diagnosis for iron accumulation but is useful in determining damage. 
  • Genetic testing can help to confirm an HH diagnosis. In most cases, HH is caused by 2 copies of a C292Y mutation. The presence of 2 copies of this mutation in the HFE gene can mean an increased risk of the disorder but does not necessarily indicate that the person will develop HH.  

The largest population study in the U.S. has found that men are more likely to be affected with a risk of 25% compared to 1% of women. Sometimes HH may be caused by 2 copies of H63D or S65C mutations or by paired combinations of the 3. On rare occasions, HH can be attributed to another genetic abnormality. 

Possible Gene Combinations for the HFE gene 

  • 2 copies of C282Y or a copy of C282Y together with a copy of H63D/S65C mutant genes will place a person is at the highest risk for HH. 
  • 2 copies each of H63D; S65C; or 1 copy each of H63D, and S65C is rarely associated with HH and will place a person in a low-risk category. Although carriers will not develop HH, they may pass it on to children they have with someone else who is also a carrier. 

Because other genes can affect the ability of a person to metabolize iron, no combination of genes can guarantee that a person will or will not develop HH. As mentioned before, only an estimated 25% of men and 1% of women with 2 copies of C282Y mutations will ever be at risk of developing organ damage that is related to excess iron. 

Two other forms of HH occur in young children and teens – neonatal and juvenile hemochromatosis. These two disorders are caused by mutations that occur in a different gene called HJV.  HJV causes changes in the protein hemojuvelin that affects iron metabolism.  

A small percentage of HH is due to mutations in the gene coding for other proteins, apart from HJV, which also affects iron metabolism. These include hemojuvelin, hepcidin, and transferrin receptor 2. However, tests are not widely available for these mutations.