Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia

Maria Domenica Cappellini, David Cassiman, Theodoros Marinakis, Hanna Rosenbaum, Frederic Bauduer, Ole Weis Bjerrum, Cristina Fraga, Derralynn Hughes, Ulrich Jäger, Maciej Machaczka, Gero Massenkeil, Atul Mehta, Carlos Vallejo, Jan Van Droogenbroeck, Mariëlle Wondergem, Peter Huijgens, Jesús Villarrubia

Research output: Contribution to journalReview articlepeer-review


The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi Genzyme, encourage haematologists to consider rare disorders in differential diagnoses. Improvement in rare disease awareness is important because diagnostics and the availability of effective therapies have improved considerably, meaning that rare haematological diseases can be accurately diagnosed and successfully managed, particularly if they are identified early. The Sherlock Holmes symposia programme includes real-life interactive clinical cases of rare haematological disorders that require awareness from the physician, to be diagnosed at an early stage. The audience are encouraged to examine each case as if they were detectives, look for clues from the clinical history and presentation, consider the potential causes, assess which tests would be required to make a definitive diagnosis and suggest optimal treatment options. To celebrate the 10-year anniversary of the Sherlock Holmes symposia, this article describes a number of clinical cases that include anaemia, thrombocytopaenia and splenomegaly among the presenting symptoms, to illustrate the importance of rigorous differential diagnosis in the identification of rare haematological disorders.

Original languageEnglish
Pages (from-to)55-61
Number of pages7
JournalEuropean Oncology and Haematology
Issue number1
Publication statusPublished - Jun 1 2016


  • Anaemia
  • Cobalamin
  • Enzyme-replacement therapy
  • Gaucher disease
  • Haematological malignancy
  • Haematology
  • Multiple myeloma
  • Splenomegaly
  • Thrombocytopaenia

ASJC Scopus subject areas

  • Hematology
  • Oncology


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