The most common form of iron overload in the U.S.

Hereditary Hemochromatosis (HH) is a disorder in which there is a buildup of iron in the body (iron overload). It is the most common form of iron overload in the United States, occurring in about 0.26% of the total population, or approximately 1 in 385 persons. HH is a genetic disorder characterized by an increased absorption of iron in the gastrointestinal (GI) tract. The absorbed iron builds up in the tissues of the body such as joints, liver, testicles and heart causing damage over time. The iron build-up in women is slower than in men due to iron losses associated with menstruation.

HH is one of the most common inherited disorders in people of northern European descent with an incidence of 1 in 200 and carrier rate of 1 in 10 persons. Although the homozygous hemochromatosis genotype (2 abnormal genes, one from each parent) is relatively common, each person’s symptoms are very different and only a small number of affected persons develop severe or life-threatening organ damage. These differences in the rate of iron accumulation and organ damage may be the result of environmental, lifestyle, and genetic factors.

Factors that may increase iron overload

Environmental/lifestyle

  • Alcohol use
  • Oral iron supplement
  • Dietary habits (meat-rich diets)
  • Estrogen or vitamin C supplement

Genetic/Acquired Disorders

  • Hepatitis B or C infection
  • Nonalcoholic steatohepatitis
  • Porphyria cutanea tarda
  • Alpha-1 anti-trypsin deficiency
  • Mutations in hepcidin, ferroportin, transferring receptor, other genes

Factors that lessen iron overload

  • Blood donation
  • Heavy periods
  • Multiple pregnancies
  • Dietary habits (vegetarian diet, tea, high calcium)

Common Symptoms

  • Type 1 hemochromatosis is the most common form of the disorder and occurs in adulthood.
  • Type 2 hemochromatosis is a rare disorder with onset in childhood.

Persons with HH absorb only a few milligrams or iron each day in excess of need; therefore, symptoms often occur only after 40 years of age when body iron stores have reached 15 to 40 grams (normal storage is 4 grams of iron). Men are more likely to experience symptoms at an earlier age than women. Patients most commonly present with nonspecific symptoms such as unexplained chronic fatigue (tiredness), weakness, joint pain or stiffness, sexual dysfunction, enlarged liver, diabetes, enlarged heart or abnormal laboratory results with high liver enzymes. Skin bronzing can eventually occur. Screening for iron overload is indicated for patients with any of these signs or symptoms.

Diagnostic Testing

  • Laboratory testing is focused on evaluation of the blood count, blood iron levels, determination of the genetic mutation, and testing for diabetes, heart and liver enzymes
  • Liver biopsy is used to confirm a diagnosis and also to determine the amount of iron build up in the liver. It also determines if the person has already developed severe liver scarring or cancer
  • MRI may also be used to measure the amount of iron stored in the liver
  • Staff at the IHTC can help you with these tests and how to understand the results

Therapy

The goal of therapy for iron overload is to reduce the amount of iron in the body and maintain iron at normal or near normal levels. Phlebotomy (the removal of blood with a needle) is the treatment of choice for hereditary hemochromatosis and should begin promptly. Phlebotomy should remove 500mL of blood (which contains 200-250mg iron) once weekly until storage iron is depleted. Regularly scheduled phlebotomy should preserve a plasma ferritin at <50mcg/L. A medicine called a proton pump inhibitor may be given to decrease the amount of iron absorbed and to decrease the frequency of phlebotomy.

Patients with hereditary hemochromatosis should refrain from taking iron supplements, including multivitamins that contain iron. A ‘low-iron diet’ is not necessary, but meat should be eaten in moderation. Patients with the disorder should avoid eating or even handling raw seafood because of the associated increased risk of bacterial infections. Also, the use of alcohol should be avoided or minimized because alcohol can increase the iron’s damage to the liver.

Prognosis

Among affected persons, the iron concentration in the liver is a major determinant of the risk of cirrhosis (scarring) of the liver and, in turn, of hepatocellular carcinoma (liver cancer). These are the two major causes of death associated with hereditary hemochromatosis. The development of cirrhosis increases the risk of hepatocellular carcinoma more than 200-fold. If the disease is diagnosed before tissue injury has occurred, phlebotomy to remove the excess iron can prevent all of the complications of hemochromatosis and return the patient’s life expectancy to normal. If organ damage is present, progression is prevented by phlebotomy, which can also decrease symptoms.

How the IHTC can help you

The IHTC is committed to providing expert care for infants, children, teens, and adults with hemochromatosis. As a center of excellence in the treatment of bleeding and clotting disorders, the IHTC offers a high level of coordinated care for patients with this disorder. We also provide prompt communication with your local healthcare provider related to our treatment plan and your progress. The IHTC team collaborates with national experts and patient participation in research studies may be available.

At the IHTC we have clinicians who are experts in treating hemochromatosis and providing support to patients with this disorder. As every patient can experience a different rate of disease progression and different symptoms it is very important that you are seen by a clinician who is familiar with the signs and treatment of hemochromatosis. We can help you with diagnosis, testing and treatment; and can provide dietary, genetic and general counselling depending on your specific needs.

For more information, please contact the IHTC.

Contact Us

317.871.0000 or 877.CLOTTER (877.256.8837)