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A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level
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Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia

M L H Cuijpers1,2, D J van Spronsen2,3, P Muus1

  • 1Department of Haematology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

International Journal of Hematology
|June 8, 2011
PubMed

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.

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