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A delayed diagnosis: recurrent fever and beta thalassaemia
Michael Samarkos1,2, Marina Mantzourani1,2, Christina Nika1
11st Department of Medicine, Laikon Hospital, Athens, Greece.
BMJ Case Reports
|October 3, 2018
Summary
Familial Mediterranean fever (FMF) and beta-thalassaemia are genetic disorders. A patient with beta-thalassaemia intermedia was diagnosed with FMF, highlighting diagnostic challenges and potential associations.
Area of Science:
- Genetics
- Immunology
- Hematology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory disorder.
- Beta-thalassaemia is a haemoglobinopathy.
- Both disorders share common geographical distributions.
Observation:
- A patient with known beta-thalassaemia intermedia presented with recurrent fevers.
Findings:
- The patient was diagnosed with FMF two years after initial presentation.
- The case highlights potential diagnostic delays in patients with co-existing genetic conditions.
Implications:
- Discusses the potential association between FMF and beta-thalassaemia.
- Explores cognitive biases contributing to delayed FMF diagnosis.
- Emphasizes the importance of considering multiple diagnoses in patients with complex genetic backgrounds.
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