Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease.
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.
Fellman
V
V
Hospital for Children and Adolescents, University of Helsinki, Finland, vineta.fellman@huch.fi
von Bonsdorff
L
L
Parkkinen
J
J
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
D001059:Apoproteins; D014168:Transferrin; C028284:apotransferrin