Hemochromatosis is when the body absorbs too much iron from the foods a person consumes, which results in excessive iron stores in the body’s blood and organs.
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 with 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 most significant risk factor for hemochromatosis is having two 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.
Family History: Having a first-degree relative (parent or sibling) who has hemochromatosis increases a person’s risk of developing the disease.
Race: Caucasians (people of 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:
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 emotional time for patients and their families. Therefore, discussing any questions or concerns, you may have with your hematologist is very important. We highly recommend that if you do any research about your disease, you do so only with reputable sources. For your convenience, we’ve listed some below.
