The eff ect of iron overload on red blood cell morphology

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Efecto de la sobre carga de hierro en la morfología eritrocitaria

Transcript of The eff ect of iron overload on red blood cell morphology

  • 722 Vol 383 February 22, 2014

    Clinical Picture

    The e ect of iron overload on red blood cell morphologyEtheresia Pretorius, Natasha Vermeulen, Janette Bester, Jeanette L du Plooy, George S Gericke

    A 76-year-old man with an extremely high serum ferritin concentration (33 790 g/L) was referred to the National Reference Laboratory for further laboratory testing to determine the cause. Genetic analysis showed that he was a carrier of a haemo chromatosis-associated allele (H63D/hetero zygous). Pathology con rmed renal insu ciency and liver damage, with an exceptionally high bilirubin concen tration of 730 mol/L and an unconjugated bilirubin concentration of 272 mol/L. This light micro scopy smear showed that most of the red blood cells have a changed morphology ( gure). Scanning electron micro scopy, by which high magni cations of the red blood cells can be viewed,

    showed that the cells form pointed extensions with large membrane pores ( gure). This abnormality is not seen in red blood cells from healthy individuals ( gure). We suggest that the presence of the H63D haemochromatosis-associated allele is partly the cause of the exceptionally high serum ferritin concentrations, which brings about the abnormal red blood cell morphology.AcknowledgmentsEthics approval was obtained from the Human Ethics Committee of the University of Pretoria. Dr Irma Ferreira PhD, Human Molecular Genetics Laboratory, AMPATH National Reference Laboratory, Centurion, South Africa assisted with molecular genotyping of HFE mutations. We also thank the Unit of Microscopy and Microanalysis of the University of Pretoria for the use of the scanning electron microscope.

    Lancet 2014; 383: 722

    Published OnlineJanuary 31, 2014

    Department of Physiology, University of Pretoria, Pretoria,

    South Africa (Prof E Pretorius PhD,

    N Vermeulen BSc, J Bester MSc, J L du Plooy MSc); and AMPATH

    National Reference Laboratory, Highveld Park, Centurion

    0046, South Africa (G S Gericke MD)

    Correspondence to:Dr Etheresia Pretorius,

    Department of Physiology, Faculty of Health Sciences,

    University of Pretoria, Private Bag x323, ARCADIA,

    0007, South [email protected]

    Figure: Abnormal red blood cell morphology(A) Whole blood light microscopy smear of 76-year-old man with the H63D haemochromatosis-associated allele (40x magni cation). (B) Scanning electron microscopy micrograph showing a red blood cell at high magni cation. (C) A red blood cell from a healthy individual showing a typical discoid RBC.


    B C

    The effect of iron overload on red blood cell morphologyAcknowledgments