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Hemochromatosis

A doctor's stethoscope lays on top a piece of paper with the "Diagnosis" field filled in with "Hemochromatosis".

Hemochromatosis is when the body absorbs too much iron from the foods a person consumes that results in excessive iron stores in the body’s blood and organs.

2 Types

Primary (Hereditary)

While a person is born with the genes that cause hemochromatosis, most people won’t develop any signs or symptoms until they are older. It’s important to note that not everyone who has the genes that cause this disease will develop serious health problems.

Secondary (Acquired)

Sometimes, other medical conditions can cause one to acquire too much iron. Some examples of these conditions include chronic liver disease, multiple blood transfusions, and kidney dialysis.

Risk Factors

Genetic Mutation: The greatest risk factor for hemochromatosis is having 2 copies of a mutated HFE gene.

Age / Sex: Men typically are affected starting around age 40, but the age for women is higher, around 60, after they no longer lose iron with menstrual bleeding or pregnancy. Neonatal hemochromatosis can affect a developing fetus, and juvenile hemochromatosis affects younger people between ages 15 and 30 years old.

Family History: Having a first degree relative (parent or sibling) who has hemochromatosis increases a person’s risk for developing the disease.

Race: Caucasians (people with Northern European descent) are at a higher risk.

Signs and Symptoms

Signs and symptoms can range from asymptomatic to the following:

  • Abdominal pain

  • Abnormal liver function tests

  • Absence of menstruation

  • Bronze, reddish, or ashen grayish skin coloration

  • Heart flutters / irregular heartbeat

  • Heart or liver failure

  • Impotence / loss of sex drive

  • Increased blood glucose or diabetes

  • Joint pain

  • Low thyroid

  • Memory fog

  • Unexplained weight loss

  • Weakness and fatigue

Screening and Diagnosis:

  • Iron blood studies

  • Liver Function Test

  • Genetic Test-HFE Mutation Testing

  • MRI

Possible Complications:

Having too much iron can cause heart problems, diabetes and liver disease. If this condition is left untreated, it can damage the body’s joints, pituitary gland and major organs including the heart, pancreas and liver. It can also affect the body’s endocrine functioning causing diabetes, hypothyroidism, hypogonadism, (infertility, impotence), and hormone imbalances. Without treatment it can be fatal.

  • Liver-cirrhosis, hepatitis, cancer

  • Heart failure

  • Erectile dysfunction

  • Diabetes

Treatment May Include:

  • Therapeutic Phlebotomy

  • Iron Chelation Therapy

  • Dietary changes

  • Avoiding iron, vitamin C, uncooked fish and shellfish, limiting alcohol

Helpful Patient Resources:

We understand that having a serious health issue can be a very scary and it is an emotional time for the patient and their families. It is very important to discuss any questions or concerns you may have with your hematologist. We highly recommend that if you do any research about your disease, that you do so only with reputable sources. For your convenience, we’ve listed some below.

Centers for Disease Control

Hereditary Hemochromatosis

Hemochromatosis.org

Learn About Hemochromatosis