Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia
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- 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
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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.