Haemochromatosis HaemochromatosisDiagnosis & symptomsTreatment Haemochromatosis (too much iron) Too much iron in the body is usually due to hemochromatosis. The diagnosis of "too much iron" is not always straightforward. The main diagnostic test is a raised serum ferritin.The degree of elevation of ferritin usually reflects the amount of iron in the body however there are other causes of a raised serum ferritin (see below). Hemochromatosis is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in organs and damages them. Without treatment, the disease can cause these organs to fail. Hemochromatosis is mainly associated with a defect in a gene called HFE. This gene helps regulate the amount of iron absorbed from food. There are two known important mutations in HFE, named C282Y and H63D.C282Y is the most important. When C282Y is inherited from both parents, too much iron is absorbed from the diet. H63D usually causes little increase in iron absorption, but a person with H63D from one parent and C282Y from the other may rarely develop hemochromatosis. The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents may develop hemochromatosis. A person who inherits the defective gene from only one parent is a carrier for the disease. There may be a slight increase in iron absorption but not enough to cause problems. Hereditary hemochromatosis is one of the most common genetic disorders. It most often affects Caucasians of Northern European descent, although other ethnic groups are also affected.About 1:200 people have two copies of the abnormal hemochromatosis gene and are susceptible to developing the disease. One person in 1:12 is a carrier. Men are about much more likely to be diagnosed with the effects of hereditary hemochromatosis than women. Men tend to develop problems at a younger age. Females have the protective effect of menstruation. Screening of relatives Brothers and sisters of people who have hemochromatosis should have the genetic test to see if they have the disease (25% risk) or if they are carriers (50% risk). Parents, children, and other close relatives of people who have the disease should have a serum ferritin and then the genetic test if this is abnormal. An alternative to checking children is to have the partner tested. If the partner is normal (no mutations) then the children can only be carriers (risk of 50%). Checking children by a serum ferritin will not be useful before the age of 30 years as there has not been enough time to develop an abnormal degree of iron overload. Useful linkswww.ironz.org.nzPhotomicrograph of the liver. The blue staining is excess iron stores in the liver cells due to haemochromatosisSymptoms Most people are diagnosed before symptoms develop. Usually because of a raised serum ferritin (blood test).This test is often part of a routine medical check.The symptoms can include the following (but all of these relatively uncommon). Arthritis.Liver disease. This ranges from mildly abnormal blood tests to serious disease (cirrhosis).Damage to the pancreas, possibly causing diabetes.Heart abnormalities, such as irregular heart rhythms or congestive heart failure.Impotence.Early menopause.Abnormal pigmentation of the skin, making it look gray or bronze. Diagnosis The serum ferritin test gives some indication of level of iron in the liver. An elevated ferritin may be due to haemochromatosis.A special blood test to detect the HFE mutation will confirm the diagnosis.A liver biopsy is only required for; People over 50 years who have abnormal liver tests or a very high serum ferritin.Hemochromatosis is often undiagnosed and untreated because usually there are no symptoms.Specialist advice will be required. This can be with a gastroenterologist or haematologist.A gastroenterologist should be involved if there are abnormal liver enzyme tests.The commonest cause of a mildly elevated serum ferritin is actually fatty liver. This condition may be due to excess alcohol intake.Or be as part of the metabolic syndrome - risk factors are being overweight, having a high cholesterol and/or high blood sugar.Treatment Treatment is simple, inexpensive, and safe. This involves removing blood in the same way as it is drawn from donors at blood banks.A unit (pint) of blood will be taken once a week for several months to a year until the serum ferritin levels returns to the low end of normal.Once iron levels return to normal, maintenance therapy involves giving a pint of blood every 2 to 4 months for life.The earlier hemochromatosis is diagnosed and treated in appropriate cases, the better. If treatment begins before any organs are damaged, associated conditions — such as liver disease, heart disease, arthritis, and diabetes — can be prevented.The outlook for people who already have these conditions at diagnosis depends on the degree of organ damage.For example, treating hemochromatosis can stop the progression of liver disease in its early stages, which means a normal life expectancy.If cirrhosis has developed, the risk of developing liver cancer increases, even if iron stores are reduced to normal levels. Regular follow-up with a specialist is necessary.