Hemochromatosis is an inherited condition first identified in the 1800’s and by 1935 it was understood to be a hereditary disorder caused by a gene mutation. It is considered one of the most common genetic disorders in the United States. This condition, also known as iron overload, occurs when the body absorbs and stores too much of the mineral iron. The extra iron accumulates in various organs of the body including the liver, heart, and pancreas which can cause life-threatening conditions such as cirrhosis, liver cancer, diabetes, and heart failure.
The nutrient iron is an essential mineral our body does not make but it can store it. Foods containing iron include red meat, poultry, fish, beans, and spinach. Normally, healthy people absorb about 10% of the iron consumed. When iron stores are sufficient, the body reduces the amount of iron absorbed by the intestines to prevent levels going too high.
People with hemochromatosis can absorb up to 30% of the iron they consume. At this rate, the body cannot get rid of the excess iron fast enough so it stores the excess in tissues of major organs such as the liver, heart and pancreas.
Causes and risk factors of hemochromatosis
Hemochromatosis is caused by either a genetic or primary reason or by what is known as secondary hemochromatosis.
Genetic hemochromatosis is when there is a defect in a gene called HFE which regulates the amount of iron absorbed from food. People who inherit the genetic mutation from both parents generally develop the disease. About 1 in 300 people in the United States has the genetic defect from both parents and is at a high risk of developing hemochromatosis.
Secondary hemochromatosis occurs as a result of another condition or circumstance such as a blood disorder, chronic liver disease, oral iron pills, or long-term kidney dialysis.
Risk factors for hemochromatosis include:
· Having two copies of a mutated HFE gene which is the greatest risk factor for hemochromatosis.
· A family history- anyone with a close relative (parent, sibling) is more likely to develop it.
· People whose ancestry is from Britain, Scandinavia, German, Irish or French have a higher risk when compared to others.
· Men are significantly more likely to have hemochromatosis than women. Since women lose iron during menstruation and pregnancy, they are at a lower risk until they reach menopause. Out of every 28 people with hemochromatosis, 18 are male and 10 are female.
Signs, symptoms and diagnosis
Most people with iron overload have mild symptoms which can include the following:
· Abdominal pain
· Women may stop menstruating
· High blood sugar levels
· Hypothyroidism or low thyroid function
· Loss of libido or sex drive and male impotence
· Reduction in size of testicles
· Skin becomes bronzed like a suntan – visible in 70 percent of people with symptoms
· Tiredness or fatigue
· Weight loss
Since many of the symptoms overlap with symptoms of other conditions, hemochromatosis can be difficult to diagnosis. If it is suspected, a person should be referred to a hepatologist or cardiologist. Two blood tests that can detect and diagnosis the condition includes:
· Serum transferrin saturation which measures the amount of iron bound to transferrin.
· Serum ferritin. This blood test measures the amount of iron the body has stored. Serum ferritin levels help diagnosis and follow the patient during treatment.
Treatment of hemochromatosis
The goal in treating hemochromatosis is to reduce the amount of iron in the body returning it to normal levels, to prevent or delay organ damage, to treat complications of the disease, and to maintain a normal level of iron in the body.
Treatment includes the following:
· Therapeutic phlebotomy – A procedure that is similar to donating blood that removes blood and iron from the body. Depending on circumstances, a person may have to do this as frequently as once a week or every 2-4 months.
· Iron chelation therapy – This uses medicine to remove excess iron from the body and is a good option for people who can’t have routine blood removal.
· Dietary changes – Changes in a person’s diet can help such as avoid taking iron pills or multivitamins with iron, limiting the intake of vitamin C as this vitamin helps the body absorb iron from food; avoiding uncooked fish and shellfish as they can contain bacteria causing infections in people with hemochromatosis; and limiting alcohol as it can increase the risk of liver disease.