Unexpectedly high but still asymptomatic iron overload in a patient with pyruvate kinase deficiency

Hematol J. 2004;5(6):543-5. doi: 10.1038/sj.thj.6200556.


Iron overload is a serious condition, which may lead to irreversible organ damage. The risk of iron accumulation in pyruvate kinase deficiency (PKD) has traditionally been regarded as low, but recent evidence has questioned this notion. We here present a case of a young PKD patient showing evidence of asymptomatic iron accumulation measured as liver iron concentration (LIC) obtained noninvasively by magnetic resonance imaging. The iron overload was not related to blood transfusions, but rather secondary to concomitant risk factors leading to increased intestinal iron absorption, such as chronic hemolysis and splenectomy. The iron status of PKD patients, preferably assessed by LIC measurements, should therefore be evaluated regularly also in asymptomatic patients. This evaluation should start already at a young age, in order to initiate iron chelation before the development of iron-induced organ damage.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / complications
  • Anemia, Hemolytic, Congenital / genetics
  • Ferritins / blood
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Intestinal Absorption
  • Iron Overload / complications*
  • Iron Overload / diagnosis*
  • Iron Overload / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics
  • Pyruvate Metabolism, Inborn Errors / complications*
  • Pyruvate Metabolism, Inborn Errors / genetics
  • Risk Factors
  • Splenectomy


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Ferritins
  • Pyruvate Kinase