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Sunday, 31 August 2003
Monday, 04 December 2006


Hemochromatosis is a genetic disease. When this disease presents in someone younger than 30 years old, the disease is termed juvenile hemochromatosis (JH) or type II hemochromatosis. Neonatal hemochromatosis (NH), also known as neonatal iron storage disease, presents in newborns. The fundamental problem with the different forms of hemochromatosis is a build up of iron in the body. The excess iron is deposited in the body’s organs and is toxic.


Neonatal hemochromatosis is extremely rare with only over 100 cases reported. Juvenile Hemochromatosis is also rare and affects the sexes equally. The disease has been most commonly reported in Italy, where at least 17 different cases have been described. Hemochromatosis is the most common genetic disorder in populations of European ancestry. The prevalence of this genetic disease varies among ethnic groups with a frequency of approximately 4 per 1000 (0.4%) in white populations. Other minority ethnicities have even lower prevalence rates.

Signs and Symptoms

Newborns with NH frequently are premature. Illness usually is evident within hours of birth, although some babies have been diagnosed at a few weeks of age. These infants at birth often have end stage liver failure. Unlike infants with neonatal hemochromatosis, the children with Juvenile Hemochromatosis often are less likely to have problems with their liver. Affected children with Juvenile hemochromatosis are more likely to have cardiomyopathy (problems with the muscle of the heart), reduced glucose tolerance (early diabetes), and hypogonadism (loss of function of the ovaries or testes). However there is a wide spectrum of how JH could manifest. Some children will have fewer complications of iron overload at diagnosis and thus have a less severe presentation.

Possible Causes

Hemochromatosis is inherited in an autosomal recessive pattern. Where as hemochromatosis has its defect on chromosome 6, the gene affected by JH arises on chromosome 1 (the gene is called HJV). With a defect in the HJV gene, this gene cannot produce its protein called hemojuvelin. Hemojuvelin helps make another protein named hepcidin. Hepcidin helps regulate how much iron is absorbed from the gut. With less hepcidin in the blood, an excessive amount of iron is absorbed from the gut and is then deposited in the body’s tissues.


A thorough medical history, physical examination, and blood tests help rule out other conditions that could be causing the symptoms. Iron excess or overload is detected by blood tests. The doctors study the level of iron in the blood including: transferrin saturation and ferritin. Because the liver is often affected, blood levels for liver inflammation will also be elevated (these enzymes are called transaminases). Often there may be signs of early diabetes that manifests with a high blood sugar (glucose). Both a CT and MRI are noninvasive imaging studies for determining liver as well as cardiac iron deposition. The definitive test for the diagnosis of iron overload is liver biopsy (a tissue sample). But not everyone requires a liver biopsy for diagnosis. Those that are diagnosed with genetic testing do not require a liver biopsy. Many patients are now diagnosed with chromosome analysis (a blood test) looking for specific gene changes associated with this disease. Similar blood tests for iron status are also recommended for family members of diagnosed hemochromatosis patients.


Treatment involves decreasing the excess iron in the child’s body. Treatment often entails doing phlebotomy (taking blood from the child) accompanied by the administration of erythropoietin which helps the body use the excess iron to make new red blood cells. Medications known as chelators that bind iron are sometimes used, especially with newer oral formulations now available (ExJade).


There are case reports of children who survive neonatal hemochromatosis but most of the infants live to a maximum of a few weeks of life. For JH and hemochromatosis adequate phlebotomy treatment is the major determinant of survival. If phlebotomy is initiated before cirrhosis develops, survival does not differ from that of the general population after adjustment for age and sex. Early detection and treatment of this iron overload disorder is crucial and can guarantee a normal lifespan in people with hemochromatosis.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Iron Disorders Institute
A description of the disease process in simple, understandable language.

American Hemochromatosis Society
website dedicated to parents of children with NH.

Center for Disease Control Hanson EH, Imperatore G, Burke W. HFE Gene and Hereditary Hemochromatosis.

Google Search for Hemochromatosis

References and Sources

Lee PL, Rao SV, Barton JC (2004). Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin, Blood, 15 June, 103:12 4669-4671. Murray KF, Kowdley KV (2001). Neonatal Hemochromatosis. PEDIATRICS, 108:4 October, 960-964.