Hereditary Hemochromatosis: What You Need to Know

Article written by Bronson Oncology and Hematology Specialists nurse practitioner Megan Dietrich, NP. 

Iron is essential for helping the body function at its best – and having too little and too much of it can cause problems. Typically, your body will only absorb the amount of iron that is needed. When too much iron is absorbed over time, you may have a genetic condition called hereditary hemochromatosis (HH).

What is Hereditary Hemochromatosis?

Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive absorption of iron in the digestive tract. HH is caused by mutations in the HFE gene and is passed on from your parents. This mutation is common in people of European descent, with up to 1 in 20 individuals being a carrier. In most cases, HH does not require treatment or lead to harm. However, over time it can lead to the buildup of iron in various organs and tissues of the body, which can lead to serious health problems if not managed properly.

Symptoms

Symptoms of HH may not be noticeable. When symptoms do exist, they may include:

• Unexplained fatigue
• Weakness
• Low sex drive
• Joint and abdominal pain

As the condition progresses and iron levels rise, more serious complications can occur, such as liver damage, heart problems and diabetes later in life.

Diagnosis

If you are experiencing symptoms of HH, talk to your primary care provider. They may look at your medical history, do a physical exam and order lab tests to confirm a diagnosis. A blood test is needed to measure your iron levels and genetic testing can be done to identify mutations in the HFE gene. Depending on your initial lab work, you may also need imaging of your liver, heart and thyroid.

Treatment

HH is treated by managing high iron levels. Reducing iron levels within your body will help prevent organ damage and manage symptoms. Treatment may include:

• Phlebotomy: This is the standard of care for most people with HH. It involves regularly removing blood from your body to lower iron levels. It is like donating blood but is done specifically to treat HH. Many symptoms related to HH tend to improve after phlebotomy treatments.
• Iron Chelation Therapy: In some cases, medications can be prescribed to help remove excess iron from the body through your urine or stool. This is usually not the first line of treatment.

Lifestyle Modifications

Regularly monitoring your iron levels and organ function is essential to managing HH. This is typically done more frequently when first diagnosed and can decrease to every 2-4 months after your iron levels are better controlled. Your healthcare provider will work with you to develop a personalized treatment plan based on your individual needs.

Dietary changes can also be beneficial in managing HH.

• Though it is not necessary or practical to avoid all foods high in iron or vitamin C, limiting these foods will help. Limiting foods that are high in iron and vitamin C will reduce how often you require phlebotomy treatments.
• Many multivitamins contain additional iron, so be sure to talk to your doctor about the vitamins and supplements you take.
• Avoid eating raw seafood and oysters. Although rare, bacteria can be found in these raw foods that thrive in iron-rich environments and can cause infections.
• Avoid drinking alcohol. This can damage the liver further. 

Genetic Counseling

Since HH is a genetic disorder, you may consider genetic counseling if you have a family history of the condition or if you are planning to start a family. A genetic counselor will discuss family planning options with you so that you understand your risk of passing the condition to your children.

Prognosis

With early diagnosis, appropriate treatment and lifestyle modifications, the prognosis for individuals with HH is generally very good. However, untreated HH can lead to serious complications, so it is important to work closely with your healthcare team to manage the condition effectively.

Remember, you are not alone in this journey. There are resources and people to support you every step of the way. If you have symptoms of HH, talk with your primary care provider. They can help guide you through necessary testing and work with a hematologist to create a treatment plan for you. Don't have a primary care provider? Visit bronsonhealth.com/find-a-doc.