title: Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease.
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.
  
  
  METHODS
  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.
authors.affiliation: Hospital for Children and Adolescents, University of Helsinki, Finland, vineta.fellman@huch.fi
authors.forename: V
authors.initials: V
authors.lastname: Fellman
authors.forename: L
authors.initials: L
authors.lastname: von Bonsdorff
authors.forename: J
authors.initials: J
authors.lastname: Parkkinen
mesh_terms: D001059:Apoproteins / Q000008:administration & dosage*; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007262:Infusions, Intravenous; D019190:Iron Overload / Q000097:blood / Q000151:congenital / Q000235:genetics / Q000628:therapy*; D014168:Transferrin / Q000008:administration & dosage* / Q000032:analysis
chemical_list: D001059:Apoproteins; D014168:Transferrin; C028284:apotransferrin