What is Neonatal Hemochromatosis?
Neonatal Hemochromatosis (NH) is a rare but extremely severe disease of newborns in which massive iron deposition occurs in the liver and other organs during fetal development. This leads to severe liver damage that can become apparent at birth.
Unlike classic (adult) hemochromatosis, NH is not caused by a metabolic defect in iron regulation. Instead, it is most often associated with an immunologic mechanism—maternal antibodies attack the fetal liver, causing extensive injury and iron deposition.
Without treatment, the disease almost always results in death of the newborn from liver failure.
It usually manifests within the first days of life:
Severe jaundice
Liver failure (bleeding, hypoglycemia, swelling, ascites)
Low birth weight
Fetal edema (hydrops)
Damage to other organs – heart, pancreas, thyroid, thymus
No. Unlike adult hemochromatosis, the neonatal form is not genetically inherited. The main mechanism is thought to be an alloimmune maternal reaction against the fetus (similar to Rh incompatibility). This means the risk of recurrence in future pregnancies is very high.
Prenatally (during pregnancy): intravenous immunoglobulin given to the mother may prevent liver damage in the fetus.
After birth:
Intensive therapy for liver failure (plasmapheresis, transfusions, antioxidants)
In most cases, the only chance for survival is liver transplantation within the first months of life
It is one of the most life-threatening liver conditions in newborns. Without treatment, mortality reaches nearly 100%. Timely administration of immunoglobulin during pregnancy and liver transplantation after birth give a chance for survival.
Clinical presentation in a newborn with liver failure
Blood tests (high ferritin, transferrin saturation, low liver function parameters)
MRI — detection of iron deposits in the liver and other organs
Biopsy of the lip mucosa or other tissues may confirm iron deposition
Diagnosis can also be confirmed retrospectively by examining the fetus or placenta
Liver: massive iron deposition, fibrosis, cirrhosis, liver failure
Heart: cardiomyopathy
Endocrine organs: pancreas (diabetes), thyroid, adrenal glands
Other organs: kidneys, thymus
Currently, the only radical treatment is liver transplantation. However, prevention in subsequent pregnancies (maternal immunoglobulin therapy during pregnancy) greatly reduces the risk of recurrence.
If your family has previously had a child diagnosed with Neonatal Hemochromatosis, be sure to inform your obstetrician-gynecologist during your next pregnancy.
Prenatal immunoglobulin therapy can save the life of your next child.
If a newborn shows symptoms of liver failure, seek immediate care at a specialized liver transplant center.
Timely treatment greatly improves the chances of survival.
Every hryvnia you donate is a step towards health, a chance for treatment, and hope for a family.
SAVELIFEKIDS-UA helps children with severe liver diseases receive medical care, including transplants.
Together, we can do more.
Thank you for your support. 
© 2025 NGO “SAVELIFEKIDS-UA” Use of materials is permitted with a mandatory active link to the source.
