Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26789. Epub 2017 Sep 12.


Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been documented in both humans and mice. However, due to the lack of follow-up studies of the described cases, the long-term prognosis remains unknown. We present a 10-year observational follow-up of a patient previously diagnosed on a molecular basis who was treated with a unique therapy of plasma transfusion fortified with oral iron, with satisfactory clinicolaboratory responses.

Keywords: congenital hypotransferrinemia; growth; hematological parameters; observational follow-up; plasma transfusion fortified with oral iron.

Publication types

  • Case Reports
  • Observational Study

MeSH terms

  • Administration, Oral
  • Blood Component Transfusion*
  • Child
  • Child Development*
  • Female
  • Follow-Up Studies
  • Humans
  • Iron / administration & dosage*
  • Metal Metabolism, Inborn Errors / blood*
  • Metal Metabolism, Inborn Errors / therapy*
  • Plasma*
  • Transferrin / deficiency*


  • Transferrin
  • Iron

Supplementary concepts

  • Congenital atransferrinemia