A delayed diagnosis: recurrent fever and beta thalassaemia. (30th September 2018)

• Record Type: Journal Article
• Authors: Samarkos, Michael; Mantzourani, Marina; Nika, Christina; Kalotychou, Vasiliki
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-09-30
• Subjects: genetics -- haematology (incl blood transfusion); Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-225802
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.