Hemochromatosis (Hereditary Iron Overload)

Hemochromatosis is a genetic condition where your body absorbs too much iron from food. This excess iron gets stored in your organs, especially your liver, heart, and pancreas. Over time, the iron buildup can damage these organs and cause serious health problems.

Most people with hemochromatosis inherit two abnormal genes, one from each parent. This makes it one of the most common genetic disorders in people of Northern European ancestry. Your body needs iron to make red blood cells and support energy production. But when you have hemochromatosis, your body cannot regulate iron absorption properly.

The condition develops slowly over many years. Many people have no symptoms until middle age, when iron levels become dangerously high. Early detection through blood testing helps prevent organ damage. Treatment is straightforward and can prevent most complications when started early.

• Extreme fatigue and weakness that does not improve with rest
• Joint pain, especially in the hands, hips, and knees
• Abdominal pain, particularly in the upper right area near the liver
• Loss of sex drive or erectile dysfunction
• Irregular or absent menstrual periods in women
• Bronze or gray skin discoloration
• Heart problems including irregular heartbeat or heart failure
• Diabetes symptoms such as increased thirst and frequent urination
• Memory problems or difficulty concentrating
• Liver enlargement or tenderness

Many people with hemochromatosis have no symptoms in the early stages. This makes regular blood testing important, especially if you have a family history. Symptoms typically appear between ages 40 and 60 in men and after age 60 in women.

Hemochromatosis is primarily caused by inheriting abnormal genes that control iron absorption. The most common type involves mutations in the HFE gene. You need to inherit one mutated gene from each parent to develop the full condition. People who inherit only one mutated gene are carriers and usually do not develop symptoms.

Risk factors include Northern European ancestry, family history of hemochromatosis, and being male. Men develop symptoms earlier because women lose iron through menstruation and pregnancy. Other factors that increase iron accumulation include heavy alcohol use, liver disease, and taking excess vitamin C supplements. Vitamin C increases iron absorption from food. Some people develop secondary iron overload from repeated blood transfusions or certain types of anemia.

Hemochromatosis is diagnosed through blood tests that measure iron levels and liver function. Your doctor will check your serum ferritin, which shows how much iron is stored in your body. Transferrin saturation testing shows how much iron is traveling in your bloodstream. Alanine aminotransferase, or ALT, is a liver enzyme that becomes elevated when excess iron damages liver cells.

Rite Aid offers blood testing that includes ALT monitoring to help detect liver damage from iron overload. If initial blood tests suggest hemochromatosis, your doctor may order genetic testing to confirm the diagnosis. Some people may need a liver biopsy to assess the degree of iron buildup and check for cirrhosis. Early screening is important for people with a family history of the condition.

• Phlebotomy, or therapeutic blood removal, to reduce iron levels in your body
• Weekly blood draws initially, then maintenance treatments every few months once iron levels normalize
• Avoid iron supplements and multivitamins containing iron
• Limit vitamin C supplements, which increase iron absorption from food
• Reduce alcohol consumption to protect your liver from additional damage
• Eat a balanced diet without avoiding iron-rich foods unless directed by your doctor
• Regular blood testing to monitor iron levels and liver function
• Chelation therapy with medications that bind to iron in rare cases where phlebotomy is not possible
• Treatment of complications like diabetes, heart problems, or joint disease as needed

Most people respond well to treatment when started early. Phlebotomy can prevent organ damage and help you live a normal life. Work with your doctor to create a monitoring schedule that keeps your iron levels in a healthy range.