, Volume 94, Issue 1, pp 97-100
Date: 08 Jun 2011

Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia

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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.