Article Text
PDF
Summary
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.
- genetics
- haematology (incl blood transfusion)
Statistics from Altmetric.com
Footnotes
Contributors MS: interpreted all data; wrote the final version of the manuscript. MM: supervised genetic analysis; critically reviewed the manuscript. CN: collected all data and reviewed the literature. VK: performed all genetic analyses; wrote the first draft of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.