Rare Medical News

Disease Profile

Neonatal hemochromatosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

E83.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Idiopathic neonatal Hemochromatosis; NH; NHC;

Categories

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;

Summary

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:

Symptoms

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.

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

Cause

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]

Treatment

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] 

Organizations

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

    Learn more

    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.

        References

        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; https://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.

        Rare Medical News