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Hematological abnormalities and 22q11.2 deletion syndrome

Overview of attention for article published in Hematology Transfusion and Cell Therapy, January 2011
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Hematological abnormalities and 22q11.2 deletion syndrome
Published in
Hematology Transfusion and Cell Therapy, January 2011
DOI 10.5581/1516-8484.20110037
Pubmed ID

Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Pedro Paulo Albino dos Santos, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin


The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test) were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene) and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.

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The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 3%
Unknown 37 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 24%
Student > Bachelor 8 21%
Researcher 4 11%
Student > Master 4 11%
Student > Doctoral Student 2 5%
Other 6 16%
Unknown 5 13%
Readers by discipline Count As %
Medicine and Dentistry 19 50%
Biochemistry, Genetics and Molecular Biology 5 13%
Linguistics 3 8%
Agricultural and Biological Sciences 3 8%
Environmental Science 1 3%
Other 0 0%
Unknown 7 18%