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Don’t fight Neonatal hemochromatosis alone.
Find your community on the free RareGuru App.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.
To learn more about other types of hemochromatosis click on the disease names below:
Source: GARD Last updated on 05-01-20
The exact cause of neonatal hemochromatosis is unknown. It is thought that women who have a baby with neonatal hemochromatosis may have an immune system that recognized the cells of the baby’s liver as foreign. The immune system is responsible for protecting people from infection. When a woman is pregnant, her immune system is supposed to protect both the mother and the baby from infection using antibodies (molecules that recognize infections). It is thought that in some cases, a woman’s immune system may direct antibodies against the baby’s liver cells. This causes the liver to be unable to absorb iron correctly. When the liver is damaged, too much iron collects in other tissues of the body. This leads to the signs and symptoms of neonatal hemochromatosis.
Last updated on 05-01-20
Neonatal hemochromatosis is not thought to be inherited. This means that changes in a specific gene are not thought to cause neonatal hemochromatosis. Instead, it is thought that the disease is caused by a woman’s immune system mistakenly directing antibodies against the cells of the baby’s liver. A woman who has had one baby with neonatal hemochromatosis may have an immune system with antibodies that are more likely to recognize the liver cells of a developing baby as foreign. Therefore, each future baby of a woman who has had one baby with neonatal hemochromatosis is at an 80% chance to have the disease as well.
Last updated on 05-01-20
Treatment options for neonatal hemochromatosis may include blood exchange transfusion and intravenous immunoglobulin (IVIG) therapy. These processes are aimed at removing excess iron from the blood. However, these treatments are only supportive and cannot cure the disease. In most cases, a liver transplant is necessary because babies with this disease have severe liver damage. Unfortunately, the symptoms and organ damage caused by neonatal hemochromatosis can be so severe that babies with the disease may not survive even with treatment. Women who have had a baby with neonatal hemochromatosis may be recommended to receive IVIG treatment in future pregnancies to prevent having other pregnancies affected with the disease.
Last updated on 05-01-20
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