Hemochromatosis
What is Hemochromatosis?
Hemochromatosis is a genetic disorder that causes your body to absorb too much iron from the food you eat. Most people absorb only the iron they need, but with hemochromatosis, your body keeps absorbing iron even when it has enough.
The excess iron gets stored in your organs, especially your liver, heart, and pancreas. Over time, this buildup can damage these organs and lead to serious health problems. Without treatment, hemochromatosis can cause liver disease, heart problems, diabetes, and joint pain.
This condition is one of the most common genetic disorders in people of Northern European descent. Many people have the gene mutations but never develop symptoms. Early detection through blood testing helps prevent organ damage before it starts.
Symptoms
Many people with hemochromatosis have no symptoms in the early stages. When symptoms do appear, they often develop gradually and can be mistaken for other conditions. Common symptoms include:
- Extreme tiredness and weakness that does not improve with rest
- Joint pain, especially in the hands and fingers
- Abdominal pain, particularly in the upper right side
- Loss of sex drive or erectile dysfunction
- Bronze or gray skin color
- Irregular heartbeat or chest pain
- Unexplained weight loss
- Memory problems or brain fog
Some people with hemochromatosis remain asymptomatic for years. This makes regular blood testing important, especially if you have a family history of the condition.
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Causes and risk factors
Hemochromatosis is usually caused by inherited gene mutations that control how much iron your body absorbs from food. The most common type is hereditary hemochromatosis, which happens when you inherit two copies of a mutated HFE gene, one from each parent. People who inherit only one copy are carriers but typically do not develop iron overload.
Secondary hemochromatosis can develop from repeated blood transfusions, certain types of anemia, chronic liver disease, or excessive iron supplement use. Risk factors include being of Northern European ancestry, having a family history of hemochromatosis, being male, and being over age 40. Men are more likely to develop symptoms because women lose iron through menstruation and pregnancy, which delays iron buildup.
How it's diagnosed
Hemochromatosis is diagnosed through blood tests that measure iron levels in your body. The key tests include serum iron, transferrin saturation percentage, ferritin, iron binding capacity, and transferrin. High ferritin levels combined with elevated transferrin saturation are strong indicators of iron overload. Liver enzymes like AST and ALT may also be elevated if the excess iron has damaged your liver.
Rite Aid offers testing for hemochromatosis through our flagship blood panel at over 2,000 Quest Diagnostics locations nationwide. Our panel measures ferritin, iron, transferrin, iron binding capacity, transferrin saturation, and liver enzymes. If initial blood tests suggest hemochromatosis, your doctor may recommend genetic testing or a liver biopsy to confirm the diagnosis and assess organ damage.
Treatment options
Treatment for hemochromatosis focuses on reducing iron levels in your body and preventing organ damage. Common approaches include:
- Phlebotomy, which involves removing blood regularly to reduce iron stores, similar to blood donation
- Chelation therapy, which uses medications to bind excess iron so your body can eliminate it through urine
- Limiting iron-rich foods like red meat, liver, and iron-fortified cereals
- Avoiding vitamin C supplements, which increase iron absorption
- Limiting alcohol, which can worsen liver damage
- Avoiding raw shellfish, which can carry bacteria that thrive in high-iron environments
- Regular blood testing to monitor iron levels and adjust treatment
Most people with hemochromatosis can live normal, healthy lives when diagnosed early and treated properly. Work with your doctor to create a treatment plan that fits your specific iron levels and overall health.
Concerned about Hemochromatosis? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
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Frequently asked questions
Hemochromatosis is a genetic condition that causes your body to continuously absorb too much iron from food. High iron can be temporary and caused by diet or supplements. With hemochromatosis, your body cannot regulate iron absorption properly, leading to dangerous buildup in organs over time.
Hemochromatosis cannot be cured because it is a genetic condition. However, it can be effectively managed with regular phlebotomy treatments to remove excess iron. When caught early and treated consistently, most people with hemochromatosis can prevent organ damage and live normal lives.
Treatment frequency varies based on your iron levels. Initially, you may need phlebotomy once or twice per week until iron levels normalize. Once levels are stable, maintenance phlebotomy is typically needed every 2 to 4 months for life. Your doctor will monitor your blood tests and adjust the schedule as needed.
Hereditary hemochromatosis affects about 1 in 200 to 300 people of Northern European descent, making it one of the most common genetic disorders in this population. However, many people carry the gene mutations without developing symptoms. It is less common in people of African, Asian, or Hispanic ancestry.
Untreated hemochromatosis can cause serious organ damage as iron builds up over time. Complications include cirrhosis and liver cancer, heart failure and irregular heartbeat, diabetes, arthritis, and hormonal imbalances. Early detection and treatment can prevent these complications entirely.
You cannot prevent hereditary hemochromatosis because it is genetic. However, you can prevent organ damage by getting tested early, especially if you have a family history. Regular blood testing and early treatment stop iron from building up to dangerous levels.
Yes, if you are diagnosed with hemochromatosis, your siblings, children, and parents should be tested. They have a higher risk of carrying the gene mutations. Early testing helps catch the condition before organ damage occurs, making treatment much more effective.
Ferritin levels above 200 to 300 ng/mL in women or above 300 to 400 ng/mL in men may indicate hemochromatosis, especially when combined with high transferrin saturation. However, ferritin can be elevated for other reasons like inflammation. Your doctor will interpret results based on your complete blood panel and symptoms.
Yes, women can get hemochromatosis, but they typically develop symptoms later than men. Women naturally lose iron through menstruation and pregnancy, which delays iron buildup. Symptoms often appear after menopause when women stop having periods and iron begins accumulating faster.
Diet alone cannot cause or cure hemochromatosis, but it can help manage iron levels. Limiting red meat, liver, and iron-fortified foods reduces iron intake. Avoiding vitamin C supplements and drinking tea with meals can decrease iron absorption. However, phlebotomy remains the primary treatment, and dietary changes are supplementary.