Hemochromatosis is an iron overload disorder in which a person absorbs too much iron from the food and drink they consume. Left untreated, it can damage various organs in the body. The skin takes on a bronze color.
The surplus iron is stored in the liver, heart, pancreas, and other organs. Damage to the pancreas can lead to diabetes. Hereditary hemochromatosis can also lead to cancer and heart disease.
Hemochromatosis can be primary, a result of genetic alterations, or secondary, as a result of another disease or condition.
Primary hemochromatosis mostly affects white people. In the United States, it affects around 5 white people in every 1,000, and 10 percent of white people carry one of the genes related to the condition. However, many people have the gene mutation but no symptoms.
As women regularly lose blood during menstruation, hemochromatosis is less common among females than males. Blood loss reduces iron levels.
What is iron overload disorder?
If the body absorbs too much iron, hemochromatosis can result.
Iron overload disorder can be either primary or secondary.
Primary, or classic hemochromatosis is passed on genetically, and it accounts for up to 90 percent of cases.
Secondary hemochromatosis can result from some kinds of anemia, for example, thalassemia, or chronic liver disease, such as chronic hepatitis C infection or alcoholic liver disease.
Although hemochromatosis is linked to, however, most people with the condition have normal liver enzymes.
A patient who is diagnosed with hemochromatosis needs prompt treatment to avoid further iron accumulation in the body.
There are some known risk factors for hemochromatosis.
Genetic factors: Having two copies of a mutated “high iron” or, HFE gene, is the greatest risk factor for hereditary hemochromatosis. The person inherits one copy of the mutated HFE gene from each parent. H refers to high, and FE means iron.
Family history: A person with a parent, child, brother, or sister with hemochromatosis is more likely to have it.
Ethnicity: People of British, Scandinavian, Dutch, German, Irish, and French ancestry have a higher risk of having the HFE gene mutation and of developing hemochromatosis.
Gender: Men are significantly more likely to develop hemochromatosis than women, and they tend to experience signs and symptoms between the ages of 40 and 60 years, while women are more likely to develop it after menopause.
This is because women lose iron during menstruation and pregnancy. A woman’s risk increases after the menopause or a hysterectomy. Among every 28 people with hemochromatosis, 18 are male and 10 are female.
Some researchers have suggested that genetic hemochromatosis may be linked to autoimmune thyroiditis, either playing a role in the development of thyroiditis, or overlapping with it.
Genetic tests can show whether a person is likely to develop hemochromatosis and enable an early diagnosis.
HFE is the gene that controls the amount of iron we absorb. The two common mutations in the HFE gene are C282Y and H63D. In the U.S., most people with inherited hemochromatosis have inherited two copies of C282Y, one from the mother and the other from the father. Around 31 percent of people with two copies of C282Y develop symptoms by their early fifties.
A person who inherits just one gene with the C282Y mutation is not certain to develop iron overload syndrome, although they will probably absorb more iron than normal, and they will be a carrier.
If both parents are carriers, there is a 1 in 4 chance of inheriting two mutated genes, one from each parent. However, some people with two copies of the C2H2Y mutation never experience symptoms.
Some individuals may inherit one C282Y and one H63D mutation. A small proportion of these people will develop hemochromatosis symptoms.
Inheriting two copies of H63D is rare. Having two copies of the H63D mutation may increase the risk of developing hemochromatosis, but this is not confirmed.
Men with HFE defects can develop symptoms from the age of 40, but in women, symptoms normally appear after the menopause.
Juvenile hemochromatosis is an inherited disease that results from defects in a gene called hemojuvelin. Iron builds up earlier in life, and symptoms appear between the ages of 15 and 30 years.
Symptoms include diabetes and problems with sexual development. Untreated, it can be fatal.
Secondary hemochromatosis: The result of a condition
A person with secondary hemochromatosis does not have the genetic mutations, but another condition or circumstance triggers the condition.
A blood disorder, such as thalassemia
Chronic liver disease, such as chronic hepatitis C infection, alcoholic liver disease, or non-alcoholic steatohepatitis
Blood transfusions and some types of anemia that require a transfusion
Rare inherited diseases that affect red blood cells, including atransferrinemia or aceruloplasminaemia
Drinking beer that has been brewed in iron containers, known as African iron overload
Oral iron pills or iron injections, with or without very high vitamin C intake
Long-term kidney dialysis