Neonatal hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. In this form of hemochromatosis, the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first days of life. Babies with the disease may be born very early (premature) or struggle to grow in the womb (intrauterine growth restriction). Symptoms of neonatal hemochromatosis may include low blood sugar (hypoglycemia), abnormalities in blood clotting, yellowing of the skin and eyes (jaundice), and swelling (edema).

The exact cause of neonatal hemochromatosis is unknown. It is thought that the disease may be caused by a pregnant woman’s immune system recognizing cells of the baby’s liver as foreign. If a woman had a baby with neonatal hemochromatosis, each future child has an 80% chance to have the disease as well. A diagnosis of neonatal hemochromatosis is suspected when a doctor observes signs and symptoms of hemochromatosis or liver disease in a newborn. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. Treatment options may include blood exchange transfusion, intravenous immunoglobulin (IVIG) therapy, and liver transplant.