TY - JOUR
TI - A delayed diagnosis: Recurrent fever and beta thalassaemia
AU - Samarkos, M.
AU - Mantzourani, M.
AU - Nika, C.
AU - Kalotychou, V.
JO - BMJ Case Reports
PY - 2018
VL - 2018
TODO - null
SP - null
PB - BMJ Publishing Group
SN - 1757-790x
TODO - 10.1136/bcr-2018-225802
TODO - colchicine;  gallium;  Gallium-67;  tubulin modulator, adult;  beta thalassemia;  Borrelia infection;  case report;  complication;  differential diagnosis;  familial Mediterranean fever;  genetics;  genotype;  human;  male;  mutation;  treatment outcome, Adult;  beta-Thalassemia;  Colchicine;  Diagnosis, Differential;  Familial Mediterranean Fever;  Gallium Radioisotopes;  Genotype;  Humans;  Male;  Mutation;  Relapsing Fever;  Treatment Outcome;  Tubulin Modulators
TODO - 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. © BMJ Publishing Group Limited 2018.
ER -