title: Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia.
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.
authors.affiliation: Department of Haematology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.|Department of Internal Medicine, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands.
authors.forename: M L H
authors.initials: MLH
authors.lastname: Cuijpers
authors.affiliation: Department of Internal Medicine, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands.|Department of Medical Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: D J
authors.initials: DJ
authors.lastname: van Spronsen
authors.affiliation: Department of Haematology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Muus
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: B C J
authors.initials: BCJ
authors.lastname: Hamel
authors.affiliation: Laboratory of Genetic, Endocrine and Metabolic Diseases (830), Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. d.swinkels@labgk.umcn.nl.
authors.forename: D W
authors.initials: DW
authors.lastname: Swinkels
mesh_terms: D000368:Aged; D000756:Anemia, Sideroblastic / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000628:therapy; D006528:Carcinoma, Hepatocellular / Q000209:etiology; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005190:Family; D017809:Fatal Outcome; D006301:Health Services Needs and Demand; D006432:Hemochromatosis; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000209:etiology; D008297:Male; D010375:Pedigree