National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Neonatal hemochromatosis


Other Names:
Idiopathic neonatal Hemochromatosis; NH; NHC; Idiopathic neonatal Hemochromatosis; NH; NHC; Neonatal hepatitis (formerly); Giant Cell Hepatitis (formerly); Hemochromatosis neonatal See More
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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).[1]

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.[1] Treatment options may include blood exchange transfusion, intravenous immunoglobulin (IVIG) therapy, and liver transplant.[1]

To learn more about other types of hemochromatosis click on the disease names below:
Last updated: 2/18/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 23 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ] 		0006709
Blepharophimosis
Narrow opening between the eyelids
0000581
Congenital hepatic fibrosis
Excessive buildup of connective tissue and scarring of liver at birth
0002612
Hypoglycemia
Low blood sugar
0001943
Increased serum ferritin
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level
[ more ] 		0003281
Increased serum iron 0003452
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] 		0000448
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding
Bleeding tendency
0001892
Autosomal recessive inheritance 0000007
Cholestasis
Slowed or blocked flow of bile from liver
0001396
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Congenital onset
Symptoms present at birth
0003577
Hepatic failure
Liver failure
0001399
Hepatic fibrosis 0001395
Hepatocellular necrosis
Death of liver cells
0001404
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Nonimmune hydrops fetalis 0001790
Oligohydramnios
Low levels of amniotic fluid
0001562
Rapidly progressive
Worsening quickly
0003678
Showing of 23 |
Last updated: 7/1/2020
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.[1][2]
Last updated: 2/18/2018
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.[1]
Last updated: 2/18/2018
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.[3] 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.[2] 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.[2][4] 
Last updated: 2/18/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Neonatal hemochromatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neonatal hemochromatosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Whitington PF. Neonatal hemochromatosis. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/neonatal-hemochromatosis/.
  2. Simonin AM and Bhatia J. Neonatal Hemochromatosis. Medscape. October 20, 2017; https://emedicine.medscape.com/article/929625-overview.
  3. Saudubray JM. Neonatal hemochromatosis. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446.
  4. Hemochromatosis, Neonatal. Online Mendelian Inheritance in Man. July 5, 2016; https://www.omim.org/entry/231100.