Neonatal Hemochromatosis Clinical Presentation

Updated: Oct 20, 2017
  • Author: Ann M Simonin, MD, FAAP; Chief Editor: Carmen Cuffari, MD  more...
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Clues that the patient has or does not have neonatal hemochromatosis may not be present. Clues during pregnancy may indicate the diagnosis of neonatal hemochromatosis, but they are nonspecific.

Oligohydramnios is frequently observed. Polyhydramnios is less commonly observed.

Suspect neonatal hemochromatosis if the infant develops liver disease and all other metabolic, infectious, and hemorrhagic causes are eliminated. Decreased fetal movement has been reported.

Forty percent of infants born with neonatal hemochromatosis are premature. Intrauterine growth restriction (IUGR) occurs in 25% of infants with neonatal hemochromatosis.


Physical Examination

The physical examination in the neonatal period is of little help but may reveal the following:

  • Placental edema

  • IUGR

  • Edema without ascites

  • Oliguria

  • Disseminated intravascular coagulation

  • Jaundice in the first few days after birth

  • Splenomegaly

Complications of the disease include liver failure, cardiac failure, respiratory failure, and disseminated intravascular coagulation.

Go to Dermatologic Manifestations of Hemochromatosis for complete information on this topic.