Neonatal Haemochromatosis

What is noenatal haemochromatosis?

Neonatal haemochromatosis is a rare iron storage disorder with onset beginning before birth. As with other types of haemochromatosis, excess iron is deposited in the liver, pancreas, heart, endocrine glands, and other tissues. Neonatal haemochromatosis progresses rapidly and is characterised by liver damage that is apparent at birth or in the first day of life.

Haemochromatosis, neonatal is a subtype of haemochromatosis.

Infants with neonatal haemochromatosis often are stillborn, premature, or born smaller than other full-term infants. End-stage liver disease is generally apparent at birth, even in premature infants. Features of liver failure include low blood sugar, yellowing of the eyes and skin (jaundice), blood clotting disorders, a low number of red blood cells (anaemia), and accumulation of fluid (ascites) in the abdomen.

How common is haemochromatosis, neonatal?

Neonatal haemochromatosis is considered rare. It has been described in a small number of families with affected infants.

What genes are related to haemochromatosis, neonatal?

The mutation that causes neonatal haemochromatosis has not been identified.

How do people inherit haemochromatosis, neonatal?

Neonatal haemochromatosis can recur in families, but its inheritance pattern remains unclear.

What other names do people use for haemochromatosis, neonatal?

  • Giant cell hepatitis, neonatal
  • Idiopathic neonatal haemochromatosis

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