Uncovering Hemochromatosis

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 can store it.  Some common 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 for a different reason 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 of Northern European descent or 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.


It is not uncommon for many people with hemochromatosis to have no symptoms, even in advanced cases.  One of the most common complaints though is joint pain. Other symptoms may include fatigue, abdominal pain, loss of sex drive, and heart problems.  Men with hemochromatosis tend to have symptoms occur between the ages of 30 and 50 while women will usually not have symptoms until after the age of 50.

As the disease advances and iron accumulates in body tissues, it can lead to serious problems which include:

·         Arthritis

·         Liver disease and liver failure

·         Damage to the pancreas that could lead to diabetes

·         Irregular heart rhythms or congestive heart failure

·         Impotence

·         Early menopause

·         Bronzed or gray looking skin

·         Pituitary damage

·         Damage to the adrenal gland

Diagnosing hemochromatosis

Hemochromatosis can be difficult to diagnosis for a couple of different reasons.  One is the symptoms of it can exist in other illnesses and the second reason is some general practitioners may have never had a patient before with this disease and are unfamiliar with it.

If it is suspected a person may have this, they are usually referred to a specialist who will conduct two blood tests detecting iron overload even before symptoms appear:

·         Serum transferring saturation – transferrin is a protein that caries iron in the blood.  This test measures the amount of iron bound to transferrin.  If saturation values are over 45%, this is considered excessively high.

·         Serum ferritin – This blood test measures the amount of iron the body has stored.

Treatment for hemochromatosis

Treatment for hemochromatosis is to rid the body of excess iron.  This process is called phlebotomy which means removing the blood the exact same way it is done from donors at a blood bank.  In fact, individuals with hemochromatosis can choose to save lives by donating their blood as their disease cannot be transmitted to someone else by a blood donation because it is a genetic disorder.

Depending on how severe the iron overload is, a pint of blood is taken once or twice a week for several months to a year and sometimes longer.  The goal is to bring the iron levels in the blood to within a normal range and to keep it there.

Maintenance therapy can be implemented once the iron levels have returned to normal.  Maintenance means giving a pint a blood every 2 to 4 months for life.  Some people may need to give more frequently but an annual blood test will determine how often blood should be removed.


People with hemochromatosis should not take iron supplements or drink alcohol as it could further damage the liver.