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neonatal hemochromatosis

Friday 30 May 2003

Definition: Neonatal hemochromatosis is an uncommon disorder, clinicopathologically defined by severe and generally fatal liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements (hemochromatotic siderosis).

Beginning as a fetal liver disease, it typically presents as liver failure
in newborn infants that are often born prematurely and with intrauterine growth restriction caused by prenatal insult.

Many cases of NH are due to maternal alloimmunity directed at the fetal liver. The principal evidence suggesting an alloimmune mechanism comes from the observation that the risk of occurrence in a gestation subsequent to one ending in an affected baby is as high as 90%.


- neonatal liver failure
- neonatal diabetes (21284338, 20662354)


- fetal alloimmunization (15861012)

  • congenital alloimmune hepatitis
  • maternal lupus antibodies
  • maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins (8213678)

- hematological anomalies

  • Rhesus-incompatibility
  • ABO-incompatibility
  • congenital hemolysis
  • anti-phospholipid syndrome

- fetal infections

  • fetal bacterial infections
  • amnion infection syndrome
  • fetal viral infections

- undefined familial condition

  • autosomal recessive inheritance
  • mitochondrial inheritance
  • gonadal mosaicism

- chromosomal anomalies

- neonatal acute myeloproliferative disease

- genetic metabolic diseases

- cardiovascular anomalies

- digestive anomalies

- malformative syndromes or malformations

- miscellaneous associations

Differential diagnosis

- neonatal or infantile hemophagocytic syndrome with liver failure (10347280)


There is no effective treatment for neonatal hemochromatosis (NH).

Thus, treatment options are limited, and survival rates with medical therapy are generally recorded as being @<@20%.

Orthotopic liver transplantation (OLT) has been applied, but with
substantial difficulty in this clinical scenario.

More effective medical therapy is clearly needed for newborns with this devastating disease.

Treatment of women at risk for having an affected baby with high-dose
intravenous immunoglobulin (IVIG) reduces the occurrence of having a severely affected baby.

This proof of concept that therapy directed at the immune mechanism of NH can prevent the disease in utero led to the hypothesis that the same approach could alter the course of already established disease

Case records

- Case 10120

See also

- neonatal acute hepatic failure
- neonatal massive hepatic necrosis
- neonatal hepatitis


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- Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Martinovici D, Ransy V, Serge Eijnden V, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J. Eur J Med Genet. 2009 Nov 1. PMID: 19887127

- Relationship of Proximal Renal Tubular Dysgenesis and Fetal Liver Injury in Neonatal Hemochromatosis. Bonilla SF, Melin-Aldana H, Whitington PF. Pediatr Res. 2009 Oct 5. PMID: 19809376

- Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. Rand EB, Karpen SJ, Kelly S, Mack CL, Malatack JJ, Sokol RJ, Whitington PF. J Pediatr. 2009 Oct;155(4):566-71. PMID: 19560784

- Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls. Tsai A, Paltiel HJ, Sena LM, Kim HB, Fishman SJ, Alomari AI. Pediatr Radiol. 2009 Aug;39(8):823-7. PMID: 19458947

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- Neonatal hemochromatosis: a case report. Pearson L, Bissinger R, Romero KR. Adv Neonatal Care. 2009 Apr;9(2):72-6. PMID: 19363327

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- A.L. Kelly, P.W. Lunt, F. Rodrigues, P.J. Berry, D.M. Flynn and P.J. McKiernan et al., Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism, J Med Genet 38 (2001), pp. 599–610.

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