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Genetic disorder results in too much iron

Stick man moving some weights around and getting exhausted, illustration - Hemochromatosis
When you have hemochromatosis, you have too much iron in your body.

The name is long but the disorder is somewhat simple to understand. When you have hemochromatosis, you have too much iron in your body.

Your body’s level of this essential nutrient is a balance between iron in food you eat and loss from bleeding or shedding iron-containing cells, according to Marshfield Clinic Oncology Nurse Practitioner Robyn Smith. The problem is the body has no way to remove iron when there’s too much.

Hemochromatosis can occur because iron intake increases, through blood transfusion or too much iron supplement; or iron absorption increases. Hereditary hemochromatosis (HH) is caused by a gene to help control iron absorbed by food but a defect stops it from working.

About 1 million people have the disorder, according to the Centers for Disease Control and Prevention, while the Iron Disorders Institute notes over 16 million people have some elevated iron.

So what’s the problem?

Too much iron can affect major organs like your liver, heart, pancreas and joints, Smith said. It could be fatal if not treated, though you can live a healthy life when it’s diagnosed early and treated before organ damage occurs.

The human body does not make iron, which carries oxygen throughout the body. It comes from what we eat. A typical Western diet contains about 10-20 mg of iron. About 10 percent is absorbed. People with HH can absorb as much as twice a normal rate and iron builds up gradually as absorption exceeds need, Smith said.

Men show symptoms in their 30s or 40s while it’s slightly later for women because of iron loss through menstruation, pregnancy and lactation.

Wide-ranging symptoms

“Symptoms are nonspecific and often develop gradually, making it somewhat hard to diagnose,” Smith said.

Symptoms can include:

  • Weakness or fatigue.
  • Skin color changes that make it look darker.
  • Joint pain especially with knuckles of the pointer and middle finger, called “The Iron Fist,” the only symptom specific to hemochromatosis. Not all with the disorder may have this symptom.
  • Abdominal pain.
  • Liver disease.
  • Diabetes.
  • Irregular heart rhythm.
  • Heart attack or heart failure.
  • Loss of period in women.
  • Loss of interest in sex.
  • Osteoarthritis.
  • Osteoporosis.
  • Hair loss.
  • Enlarged liver or spleen.
  • Impotence.
  • Infertility.
  • Hypogonadism.
  • Hypothyroidism.
  • Hypopituitarism.
  • Depression.
  • Adrenal function problems.
  • Early onset neurodegenerative disease.
  • Elevated blood sugar, liver enzymes or iron.

If your primary care provider finds too much iron in your blood an iron study blood test for the HH gene can be ordered.

Treatment involves blood removal

Therapeutic blood removal or phlebotomy is the treatment for hemochromatosis. This is like regularly donating blood. If you have anemia, chelation therapy can help. Once iron levels are normal, maintenance therapy can start. This could be phlebotomy every two to four months for life. You may need to give blood depending on what you eat and how quickly your body absorbs iron.

Some people, Smith added, may need other treatments if hemochromatosis leads to long-term problems.

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