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American Academy of Pediatrics
Article

Exogenous Apotransferrin and Exchange Transfusions in Hereditary Iron Overload Disease

Vineta Fellman, Leni von Bonsdorff and LicTech‡; and Jaakko Parkkinen
Pediatrics February 2000, 105 (2) 398-401; DOI: https://doi.org/10.1542/peds.105.2.398
Vineta Fellman
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Leni von Bonsdorff
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LicTech‡; and Jaakko Parkkinen
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Abstract

Objective. To investigate whether apotransferrin administration and exchange transfusion can improve outcome in patients with the recently described recessive congenital iron overload disease, presenting with intrauterine growth retardation, severe lactic acidosis, aminoaciduria, and hemosiderosis of the liver that so far has been treatment-resistant and lethal.

Methodology. Because the patients have hypotransferrinemia, hyperferritinemia, increased transferrin saturation, and bleomycin detectable iron in plasma, we designed a treatment regime aiming at decreasing free iron and iron overload. The serum transferrrin concentration was increased to adult level (2–5 g/L) by intravenous apotransferrin administrations and thereafter exchange transfusion was performed.

Results. Two patients were treated. In patient 1, the transferrin saturation decreased from a baseline value of 100% and remained normal after the third exchange transfusion, and in patient 2, a reversible beneficial effect was seen on transferrin saturation and bleomycin-detectable iron. However, both infants died later of the disease, at 10 and 8 weeks of age, respectively.

Conclusions. Exogenous apotransferrin administration proved to be safe and might deserve evaluation in other neonatal diseases with presence of free iron in plasma. hemosiderosis, metabolic acidosis, newborn infant, transferrin.

  • Received December 11, 1998.
  • Accepted April 27, 1999.
  • Copyright © 2000 American Academy of Pediatrics

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Pediatrics
Vol. 105, Issue 2
1 Feb 2000
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Exogenous Apotransferrin and Exchange Transfusions in Hereditary Iron Overload Disease
Vineta Fellman, Leni von Bonsdorff, LicTech‡; and Jaakko Parkkinen
Pediatrics Feb 2000, 105 (2) 398-401; DOI: 10.1542/peds.105.2.398

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Exogenous Apotransferrin and Exchange Transfusions in Hereditary Iron Overload Disease
Vineta Fellman, Leni von Bonsdorff, LicTech‡; and Jaakko Parkkinen
Pediatrics Feb 2000, 105 (2) 398-401; DOI: 10.1542/peds.105.2.398
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