Hemochromatosis type 3 is a disorder caused by a change (mutation) in the TFR2 gene. This change causes the body to absorb too much iron as it digests food. The excess iron is stored in several of the body’s organs and can eventually cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis, and Type 3 is one of the rarest forms. It is an autosomal recessive disorder, meaning that if you inherit the changed gene from both of your parents, then you will have the disorder (genes come in pairs, one copy from each parent). Parents with only one changed copy of the TFR2 gene are known as carriers. Carriers usually do not have symptoms of the disorders they carry, but in this case slightly higher body iron levels are common.
Common symptoms include joint pain, fatigue, weakness, bronzed skin, diabetes, heart failure, and issues with the ovaries or testes (hypogonadism). In men, hemochromatosis may cause loss of sex drive (low libido) or impotence. Symptoms often appear before age 30. Women who develop the disorder have usually already gone through menopause. Hemochromatosis is the most common hereditary disorder among the Caucasian population.
For many people, the only symptom is a high level of iron in the blood, which can make forming a diagnosis challenging. Two types of blood tests may be done to diagnose the disorder. To confirm the diagnosis, other tests may include an MRI and liver biopsy. Treatments are available to manage the disorder. Research is ongoing, so talk with your doctor(s) about the most current treatment options. A genetic counselor can help you understand how the disorder runs in families. Support groups are also a good source of information and can connect you with others living with hemochromatosis.