What is Neonatal Hemochromatosis?

Neonatal hemochromatosis or Gestational Alloimmune Liver Disease (GALD) is a rare condition caused by injury to the liver before a baby is born.

About Hemochromatosis in children

Neonatal hemochromatosis is most often caused by a problem in the mother’s immune system during pregnancy which leads her immune system to attack the infant’s liver cells. When this happens, the liver becomes injured leading to the many problems seen in infants with neonatal hemochromatosis. Because neonatal hemochromatosis starts with a problem in the mother’s immune system, if an infant is born with neonatal hemochromatosis, it is more likely to happen in other babies born to the same mother, which means that mothers may need to receive additional treatment during pregnancy. However, it is not a genetic disease.

What are the symptoms of Neonatal Hemochromatosis?

Infants with neonatal hemochromatosis present with acute liver failure soon after birth. This means that the liver is unable to make proteins including the ones needed to help blood clot and the babies are, therefore, at risk of serious bleeding. In addition, infants with liver failure may have difficulty keeping their blood sugars normal and may appear yellow or jaundiced.

How is Hemochromatosis diagnosed in children?

There are several tests that help diagnose infants with neonatal hemochromatosis. Blood tests that show abnormalities in bleeding or other liver functions may suggest that the infant has liver disease, but do not show the cause. Because neonatal hemochromatosis involves how the body handles iron, blood tests that look at iron and the proteins that go with it can also be helpful in making the diagnosis. An MRI may be helpful in showing a build-up of iron in the pancreas. The final test is taking a small piece of tissue from the lip and looking for iron there.

What is the treatment for Neonatal Hemochromatosis?

Treatment for neonatal hemochromatosis involves trying to minimize the damage done to the liver by replacing the infant’s blood using what is called an exchange transfusion to remove any antibodies from the mother leading to the liver damage. In addition, the infant is given an infusion of immune proteins called IVIG which helps to stop the damage to the liver. Infants whose liver is too damaged to recover may need to have a liver transplant, which can be very difficult in an ill newborn baby. The mother will also need to receive treatment with future pregnancies.

What is the long-term outlook of Neonatal Hemochromatosis?

Neonatal hemochromatosis is a rare condition and understanding its causes and how to treat it is growing rapidly. Previously, infants born with neonatal hemochromatosis had a very poor prognosis and almost all passed away in the newborn period. With the current treatment options, infants are doing better, but in order for treatment to be successful infants need to be diagnosed quickly so they can.

 
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