How does someone get it?
HH is an autosomal recessive disease meaning a person has to get a copy of the gene (double mutation) from each parent. At present there are two different gene mutations (C282Y and H63D) that are associated with the disease. Certain ethnic groups are more likely to carry the gene than others, e.g., Irish, British, Scottish, and Northern Europeans. Usually the parents are carriers, meaning they do not have the disease. It is estimated that about 1 out of 200 people in the US has a double mutation and that about 3-5 per 1000 people have HH. Because the symptoms can be very different from one person to the next and some people with the disease do not show symptoms until they are seriously affected by the disease, it is recommended that all children of a person with HH be also tested for the disease.
How does someone get tested for HH?
HH can be detected by blood tests that measure the amount of iron storage in the body. These tests are serum ferritin, total iron binding capacity (TIBC), and transferrin saturation. HH is not detected by routine blood counts or hemoglobin counts.
There are genetic tests that can be done, but it is controversial whether these tests should be done to screen for the disease. There are a couple of reason why some doctors do not recommend using genetic tests to screen for the disease: 1) not all the genetic mutations that cause HH are known, thus some people might develop the disease even if the current tests show they do not have a double mutation, and 2) not everyone with the double mutation ends up having signs of excess iron storage. Because not everyone with a double mutation will develop the disease, doctors want to avoid treating people who do not need it.
On the other hand, if a parent with HH knows which mutation he or she has, then the children can be screened for the disease before any abnormal changes develop in serum ferritin, TIBC and transferrin saturation. If a parent with HH has a negative mutational analysis, then children can be screened with periodic fasting iron studies, usually just before puberty and then every 1-2 years or until they are abnormal. In any case, if a child is found to be at risk for HH after a screening test, he should be referred to a specialist, usually a gastroenterologist, for confirmation of the diagnosis.
What treatments are available?
Treatments for HH is best started before a person shows symptoms of the disease. Treatments consist of removing excess iron from the body through routine blood withdrawals (phlebotomy) until the serum ferritin and other labs are normalized. Initially, this is much like how a person gives blood at a donation center. If treatments are started early in the course of the disease, many of the long-term complications such as heart disease and liver failure can be prevented.
Some people do not like the idea of phlebotomy and wonder if there are other treatments. At this time, iron chelation (giving chemicals that bind up excess iron out of the blood before it can be deposited in the body) is not an approved method of treatment for HH and has not been shown to be as effective as routine phlebotomy. Certain dietary changes be made, such as avoiding large amounts of Vitamin C and foods high in iron, but again, the only effective treatment for long term improvement is phlebotomy.
Two other types of iron overload syndromes are neonatal hemochromotosis, occurring in newborns, who have symptoms of liver dysfunction shortly after being born, and juvenile hemochromotosis, which is similar to, but genetically different from HH, with more severe symptoms that occur at an earlier age.
Hemochromatosis resources:
- Iron Overload Disease Association - a website maintained by a nonprofit organization that has been dedicated to raising public awareness of the disease.
- American Hemochromatosis Society - another nonprofit organization started by a woman who's mother died of HH. This site has extensive information about the genetics of the disease.
