Hemochromatosis in Children: Symptoms and Diagnosis

What Is Hemochromatosis?

Hemochromatosis (pronounced "he-muh-chrome-uh-toe-sis") is a pediatric genetic disorder that causes the body to absorb and store too much iron. Certain vitamins and minerals are normally stored in the liver, and iron is one of them. However, too much iron stored in the liver can damage it, and cause hepatitis, a viral liver infection. Excess iron is also deposited in other organs and tissues, especially the heart and pancreas, causing damage to these organs, too. It is also called "bronze diabetes".

The disorder runs in families. The adult form of hemochromatosis most often affects white men of European descent who are older than 50. Hemochromatosis occurs more commonly in adults than originally thought. It is estimated that this type of hemochromatosis affects as many as one in every 300–400 people.

In neonatal hemochromatosis, hepatitis progresses so quickly that babies who have it often do not survive their first week after birth, are stillborn, or die in the womb.

Neonatal hemochromatitis is an extremely rare condition; only about 100 cases have been reported. However, experts have recently speculated that many babies who die shortly after birth may have hemochromatosis.

Neonatal hemochromatosis may affect later pregnancies, but no ante-natal test is available yet. However, once the condition has been identified in a family, mothers can be carefully monitored throughout any later pregnancies, and tests can be performed once the baby is born.

Hemochromatosis Symptoms in Infants and Children

Symptoms may include:

  • Swollen liver
  • Cirrhosis of the liver
  • Abdominal pain
  • Weakness
  • Skin color changes (may be gray, brown, or bronze)
  • Edema, or swelling caused by a buildup of fluids in the body
  • Enlarged heart
  • Heart failure
  • Diabetes
  • Too much iron in the lungs can cause siderosis, an inflammation of the lungs usually seen in metal workers who inhale dust containing iron particles.

Hemochromatosis Diagnosis

Babies with neonatal hemochromatosis are often very ill when they are born, so doctors perform tests right away to rule out or confirm the diagnosis. Hemochromatosis diagnostic tests may include:

  • Blood tests to check liver function
  • Tests to examine the liver:
    • CT Scan of the abdomen – a type of X-ray that uses a computer to make pictures of the inside of the body
    • MRI Scan of the abdomen – a test that uses magnetic waves to make pictures of the inside of the body
    • Liver biopsy – removal of a sample of liver tissue to be examined
    • Ultrasound a test that uses sound waves to examine the liver
  • Genetic testing to verify the presence of the genetic defect that causes hemochromatosis

Hemochromatosis Treatment

Hemochromatosis progresses slowly in adults, so they are often able to control the disease with medication, and by restricting iron in their diet. Sometimes their iron levels can be returned to normal by having about 500 mL of blood removed each week over the course of two to three years.

Because neonatal hemochromatosis moves much more quickly, the best hemochromatosis treatment for babies is a liver transplant. In fact, neneonatal hemochromatosis was the reason for the world's youngest-ever liver transplant on a five-day-old baby girl.

Learn about other Liver Disease States.