Neonatal hemochromatosis is a rare genetic disorder where a fetus develops advanced liver disease while in the womb due to excess iron storage. The condition likely occurs due to the presence of atypical antibodies that attack liver cells in the fetus.

Without treatment, neonatal hemochromatosis can lead to infant death. However, intravenous immunoglobulin can help improve outcomes.

This article reviews the symptoms, causes, diagnosis, and treatment of neonatal hemochromatosis. It also looks at the outlook and possible prevention of the condition.

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Symptoms relating to neonatal hemochromatosis typically begin developing within 48 hours of birth. However, some suggest the condition may present between 18 weeks of gestation and 3 months after delivery.

Some common symptoms that may appear include:

  • abnormalities in blood clotting, known as coagulopathy
  • low blood sugar, which doctors call hypoglycemia
  • yellowing of the eyes, skin, or both, which is known as jaundice
  • swelling, or edema
  • end stage liver disease or liver failure
  • atypical or absent urine production
  • the accumulation of iron in organs such as the:
    • heart
    • salivary glands
    • pancreas
    • thyroid

Learn more about hemochromatosis.

The exact cause of neonatal hemochromatosis remains unclear.

However, genetics plays a role in its development. A person who delivers one child with the condition has an 80% risk of having another child with the condition.

However, it does not follow typical patterns of inheritance. As a result, neonatal hemochromatosis may be familial and congenital but is not an inherited condition.

Evidence suggests that gestational alloimmune liver disease causes fetal liver disease. In most pregnancies, the maternal body produces antibodies that help protect the developing fetus.

When gestational alloimmune liver disease occurs, the antibodies mistake the cells of the fetus as foreign body threats and attack the liver.

The atypical antibodies in some people may explain why there is a high recurrence rate in future pregnancies.

In some cases, a doctor can diagnose neonatal hemochromatosis if the fetus or infant exhibits signs of liver failure in the womb or soon after birth.

To help with diagnosis, a doctor may draw blood to check for elevated levels of ferritin, a protein that helps store iron, in the blood. Elevated levels of ferritin can indicate iron accumulation or liver disease.

They may also order additional testing, such as a biopsy or MRI. The doctor can advise on which tests they order and what they involve.

Liver transplant for neonatal hemochromatosis can result in long-term survival. However, it also has numerous risks and potential complications, such as possible damage to other organs.

More recently, treatment can involve intravenous immunoglobulin (IVIG) with or without exchange transfusion. Evidence suggests that IVIG may improve outcomes for infants with neonatal hemochromatosis.

The infant’s doctor can advise on what treatments they recommend and answer any questions a parent or caregiver may have.

Learn more about hemochromatosis testing.

The Genetic and Rare Diseases Information Center estimates that fewer than 1,000 people in the United States are living with neonatal hemochromatosis.

Experts suggest that someone who delivers a baby with neonatal hemochromatosis has an 80% chance of having future pregnancies involving the same condition.

The reason for the high recurrence rate likely relates to the potential underlying cause of antibodies from the pregnant individual’s body attacking the liver cells of the fetus.

IVIG treatment during subsequent pregnancies may help prevent neonatal hemochromatosis in people who have previously delivered a baby with the condition.

Treatments for neonatal hemochromatosis may vary. However, some researchers recommend, in subsequent pregnancies, administering 1 gram (g) per kilogram of body weight, up to a maximum of 60 g of IVIG, at 14 weeks and 16 weeks. They can then administer the medication weekly from the 18th week of pregnancy until delivery.

The outlook for children born with neonatal hemochromatosis is historically relatively low.

Some evidence suggests a survival of 80% in infants who receive IVIG treatment with or without exchange transfusion.

Survival may drop to about 35% in those who do not respond well to medication and require a liver transplantation.

However, it is important to note that the outlook will be different for each infant. A doctor can provide more accurate information according to individual circumstances.

Neonatal hemochromatosis is a rare condition in which a fetus or infant develops liver disease or failure due to iron overload. The condition can cause severe complications and be life threatening without effective treatment.

The most likely underlying cause involves the antibodies in the pregnant body mistaking the fetus’s liver cells as external invaders in the womb. The antibodies attack the liver cells, causing damage and death.

Treatment may involve the use of intravenous immunoglobulin (IVIG) or a liver transplant. IVIG may also help prevent neonatal hemochromatosis in future pregnancies.