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Neonatal Hemochromatosis Workup

  • Author: Jatinder Bhatia, MBBS, FAAP; Chief Editor: Carmen Cuffari, MD  more...
Updated: Jul 08, 2016

Approach Considerations

Relevant laboratory tests and findings include the following:

  • CBC count with differential - To check for anemia and thrombocytopenia
  • Total and direct bilirubin levels - Elevated
  • Reticulocyte count - To check for any signs of hemolysis
  • Glucose level - Infants with neonatal hemochromatosis can present with hypoglycemia
  • Albumin level - May be low, which accounts for the infants' edema
  • Urinalysis - To check for causes of oliguria and any renal involvement
  • BUN and creatinine levels - To evaluate renal function
  • Prothrombin time (PT), activated partial thromboplastin time (aPTT), and fibrin split products - To rule out any hemorrhagic causes
  • Transferrin level - Low but hypersaturated (one of the most common findings)
  • Serum ferritin levels - Elevated
  • Total iron-binding capacity - Low
  • Cytoferrin level - Markedly elevated
  • Lactic acid dehydrogenase (LDH) level - Markedly elevated
  • Aminotransferases level - Mildly elevated
  • Iron levels - Usually in the reference range

MRI and Ultrasound

Imaging studies include MRI and ultrasonography. MRI is the most helpful study in the diagnosis of neonatal hemochromatosis.[6]

Ultrasonography demonstrates patency of the ductus venosum; this is because of liver injury and, thus, portocaval shunting occurs.

MRI can be used to detect increased levels of iron in the liver compared with levels in normal tissues and can be used to document any areas of siderosis of the pancreas and myocardium. Absence of siderosis of the spleen may also be observed.

MRI of infants in utero has not demonstrated any siderosis or signs of neonatal hemochromatosis.



Liver biopsy is not easily performed in these infants because of the increased tendency of bleeding, but it is helpful in aiding in the diagnosis.

Another option is to perform a punch biopsy of the oral mucosa. This area is used because of the presence of the small salivary glands. Punch biopsy is performed by using 3-mm punch biopsy of the mucosa of the lower lip, and bleeding can be controlled. Salivary glands are siderotic if neonatal hemochromatosis is present.


Histologic Findings

Microscopic examination of the liver reveals that the hepatocytes have giant-cell transformation or pseudoacinar transformation with bile plugs, or no hepatocytes are present at all. Also, the hepatocytes may show siderosis, while Kupffer cells are spared. Scarring may be present from macrophages, which contain high levels of stainable iron. The bile duct is proliferated. The spleen, lymph nodes, and bone marrow contain a small amount of stainable iron. The placenta is not siderotic, and villitis has not been reported.

Contributor Information and Disclosures

Jatinder Bhatia, MBBS, FAAP Professor of Pediatrics, Medical College of Georgia, Georgia Regents University; Chief, Division of Neonatology, Director, Fellowship Program in Neonatal-Perinatal Medicine, Director, Transport/ECMO/Nutrition, Vice Chair, Clinical Research, Department of Pediatrics, Children's Hospital of Georgia

Jatinder Bhatia, MBBS, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society for Nutrition, American Society for Parenteral and Enteral Nutrition, Academy of Nutrition and Dietetics, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Gerber.


Roland L Boyd, DO Neonatologist, Section of Neonatology, Neonatal Services, Ltd

Roland L Boyd, DO is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David A Piccoli, MD Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine

David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

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