A 76-year-old man with extremely high iron levels (serum ferritin of 33,790 μg/L) and genetic markers for hemochromatosis was found to have liver and kidney damage. Examination of his red blood cells found most had abnormal shapes when viewed under light and electron microscopy. Scanning electron microscopy showed the red blood cells had pointed extensions and large pores not seen in healthy individuals. The presence of the genetic mutation associated with hemochromatosis is likely the cause of his extremely high iron levels, which changed the shape of his red blood cells.
Original Description:
Efecto de la sobre carga de hierro en la morfología eritrocitaria
Original Title
The eff ect of iron overload on red blood cell morphology
A 76-year-old man with extremely high iron levels (serum ferritin of 33,790 μg/L) and genetic markers for hemochromatosis was found to have liver and kidney damage. Examination of his red blood cells found most had abnormal shapes when viewed under light and electron microscopy. Scanning electron microscopy showed the red blood cells had pointed extensions and large pores not seen in healthy individuals. The presence of the genetic mutation associated with hemochromatosis is likely the cause of his extremely high iron levels, which changed the shape of his red blood cells.
A 76-year-old man with extremely high iron levels (serum ferritin of 33,790 μg/L) and genetic markers for hemochromatosis was found to have liver and kidney damage. Examination of his red blood cells found most had abnormal shapes when viewed under light and electron microscopy. Scanning electron microscopy showed the red blood cells had pointed extensions and large pores not seen in healthy individuals. The presence of the genetic mutation associated with hemochromatosis is likely the cause of his extremely high iron levels, which changed the shape of his red blood cells.
The eect of iron overload on red blood cell morphology
Etheresia Pretorius, Natasha Vermeulen, Janette Bester, Jeanette L du Plooy, George S Gericke Lancet 2014; 383: 722 Published Online January 31, 2014 http://dx.doi.org/10.1016/ S0140-6736(13)61208-8 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 Africa resia.pretorius@up.ac.za
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 haemochromatosis-associated allele (H63D/heterozygous). Pathology conrmed renal insuciency and liver damage, with an exceptionally high bilirubin concentration of 730 mol/L and an unconjugated bilirubin concentration of 272 mol/L. This light microscopy smear showed that most of the red blood cells have a changed morphology (gure). Scanning electron microscopy, by which high magnications 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 haemochromatosisassociated allele is partly the cause of the exceptionally high serum ferritin concentrations, which brings about the abnormal red blood cell morphology. Acknowledgments Ethics 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.
Figure: Abnormal red blood cell morphology
(A) Whole blood light microscopy smear of 76-year-old man with the H63D haemochromatosis-associated allele (40x magnication). (B) Scanning electron microscopy micrograph showing a red blood cell at high magnication. (C) A red blood cell from a healthy individual showing a typical discoid RBC.