International Journal of Hematology

, Volume 94, Issue 1, pp 97–100

Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia

  • M. L. H. Cuijpers
  • D. J. van Spronsen
  • P. Muus
  • B. C. J. Hamel
  • D. W. Swinkels
Case Report

DOI: 10.1007/s12185-011-0875-y

Cite this article as:
Cuijpers, M.L.H., van Spronsen, D.J., Muus, P. et al. Int J Hematol (2011) 94: 97. doi:10.1007/s12185-011-0875-y

Abstract

We present a patient with iron overload, who was initially diagnosed with hereditary haemochromatosis. Family analysis, however, established that the iron overload was secondary to congenital sideroblastic anaemia. The patient died of a hepatocellular carcinoma, likely a complication of iron overload, despite phlebotomies. Increased awareness, as well as development of evidence-based clinical guidelines, is required for timely diagnosis and adequate treatment.

Keywords

Sideroblastic anaemia Iron overload Hereditary haemochromatosis Hepcidin 

Copyright information

© The Japanese Society of Hematology 2011

Authors and Affiliations

  • M. L. H. Cuijpers
    • 1
    • 2
  • D. J. van Spronsen
    • 2
    • 3
  • P. Muus
    • 1
  • B. C. J. Hamel
    • 4
  • D. W. Swinkels
    • 5
  1. 1.Department of HaematologyRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  2. 2.Department of Internal MedicineCanisius-Wilhelmina HospitalNijmegenThe Netherlands
  3. 3.Department of Medical OncologyRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  4. 4.Department of Human GeneticsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  5. 5.Laboratory of Genetic, Endocrine and Metabolic Diseases (830), Department of Laboratory MedicineRadboud University Nijmegen Medical CentreNijmegenThe Netherlands

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