Hereditary hemochromatosis is caused by defects in a gene called HFE.Read more...
What is hemochromatosis?
Hereditary Hemochromatosis is a genetic disorder that causes the body to absorb and store too much iron. The excess iron builds up in the body's organs over time and eventually leads to organ damage. If hemochromatosis is not detected and treated early, it may eventually cause serious disorders such as liver disease, heart disease, diabetes, and arthritis later in life.
Iron, too much or too little?
Iron is an essential nutrient that is found in many foods. Iron is found in highest levels in red meat, iron-fortified breads, and cereals. Our body requires iron to make hemoglobin, a component of blood that is responsible for transporting oxygen from the lungs to all of the tissues of the body.
While too little iron can lead to anemia, too much iron can cause irreversible organ damage, eventually leading to diseases and early death.
Normally, people absorb approximately 10% of the iron contained in the food that they eat. However, people with hemochromatosis absorb approximately 30% of the iron. Since the body cannot excrete excess iron, the extra iron is absorbed and retained in the organs of their body during their lifetime, particularly the liver, heart and pancreas, causing a number of serious diseases later in life.
Note: Hereditary Hemochromatosis is the most common type of hemochromatosis. Several other rarer forms of hemochromatosis also exist that are not discussed in this website. The known types of hemochromatosis are:
- Primary hemochromatosis (aka hereditary hemochromatosis) is the most common type of hemochromatosis. It is an inherited disease that is caused by mutations in the HFE gene.
- Juvenile hemochromatosis (aka Type 2 hemochromatosis) leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. It is caused by mutations in the HJV or HAMP gene.
- Neonatal hemochromatosis causes rapid iron buildup in a baby's liver that can lead to death. The cause is unknown.
- TFR2-Related Hereditary Hemochromatosis. Age of onset is earlier than in HFE-associated HHC. It is caused by mutations in the TFR2 gene
- Type 4 hemochromatosis. Caused by mutations in the SLC40A1 gene.