
A delayed diagnosis: recurrent fever and beta thalassaemia
Author(s) -
Michael Samarkos,
Marina Mantzourani,
Christiika,
Vasiliki Kalotychou
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-225802
Subject(s) - familial mediterranean fever , medicine , pediatrics , beta thalassemia , beta thalassaemia , thalassemia , disease
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.