by Jennifer Dykeman, MMSc Candidate
Many people might not even know they have Hemochromatosis, a common genetic condition that can be diagnosed through a simple blood test. In honor of Hemochromatosis Awareness Month we are taking a moment to discuss this important condition.
Hereditary hemochromatosis (HH) is one of the most common genetic conditions in the United States, affecting about 1 million Americans. HH is an iron-overload condition that causes the body to absorb too much iron from food which can lead to significant health issues. Hereditary hemochromatosis can be seen in multiple populations, but it is most common in people with Northern European ancestry. It is estimated that as many as 16 million Americans have elevated iron and can also be at risk. It is important to be aware of your family history and your iron levels.
Typically, iron is considered a helpful element. It helps carry oxygen to different parts of the body and can be found in foods like red meat, pork, poultry, spinach, and beans. BUT too much iron in the body can cause someone to feel joint pain, skin color changes (darkening of skin in some parts of the body), fatigue, and shortness of breath. If the elevated iron levels are untreated, people may be at risk to develop diseases like diabetes, heart attack, arthritis, depression, hypothyroidism, and some cancers.
There are different types of hereditary hemochromatosis that can cause someone to develop symptoms in childhood or adulthood. Having a family history of elevated iron increases your chances for this condition.
Most types are inherited as an autosomal recessive condition, meaning someone with the condition has genetic changes in both copies of their hemochromatosis gene. Symptoms can begin in childhood. If someone has a genetic change in one copy of this gene, they are considered a carrier and do not usually have symptoms.
Some types of hereditary hemochromatosis are inherited as an autosomal dominant condition. This means that they have medical issues with only one copy of their hemochromatosis gene has a genetic change. These types have symptoms that usually begin in adulthood.
Even if you have inherit the gene changes (or change) that cause HH, not everyone will have medical issues. For example, women and/or people who menstruate are less likely to develop the health complications of HH since menstruation results in additional excretion of iron during their period.
Other than menstruation, the body cannot naturally reduce iron levels. This is why it is important to have your levels checked through bloodwork. An iron panel test that looks at serum iron, serum ferritin, total iron binding capacity, hemoglobin, and transferrin are factors in the blood that can help establish a diagnosis of hemochromatosis. Genetic testing can help establish a diagnosis of hereditary hemochromatosis and can help provide management or prevention for your family.
The treatment for hemochromatosis is called therapeutic blood removal or phlebotomy (TP). TP is similar to a regular blood donation, but TP requires a prescription written by a doctor. Additionally, a regular blood donation can be done every 8 weeks, while a person with hemochromatosis may need to get their blood drawn as frequently as twice a week to get iron levels back down to a safe range. Diet modifications can also help manage the condition, with avoiding iron supplements and foods high in iron.
We have gathered some helpful resources to learn more about hemochromatosis:
The Hemochromatosis.org is a great resource to get comprehensive, accurate information on hemochromatosis. It helps explain the process of receiving a diagnosis, what treatment may look like, patient stories, and diet information. Learn more by visiting their website here.
Centers for Disease Control and Prevention
The Centers for Disease Control and Prevention (CDC) has a dedicated page for hemochromatosis that reviews the condition, causes, diagnosis, and tips on preventative measures. Explore their resources by visiting their website here.
The National Society of Genetic Counselors
If you have a personal or family history of hemochromatosis and would want to learn more about this condition, you can locate a genetic counselor by using the National Society of Genetic Counselor’s Find a Genetic Counselor tool at Find a Genetic Counselor – National Society of Genetic Counselors
As always, talk to your doctor about any information presented in this article, on the sites listed in this article, and with any questions you may have about your family’s care. Remember your doctor and genetic counselor are there to help!