Article (Scientific journals)
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia
David, Bianca-Andreea
2017In J Pediatr Hematol Oncol., 39
Peer reviewed
 

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Keywords :
macrothrombocytopenia, a-actinin 1, platelets
Abstract :
[en] The most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the field of inherited thrombocytopenia. We report a series of 11 cases of a newly diagnosed entity: ACTN1-related macrothrombocytopenia. Mutations in the gene ACTN1 cause mild macrothrombocytopenia characterized by elevated mean platelet volume and elevated immature platelet fraction, and low bleeding tendency. Its transmission is autosomal dominant. Molecular diagnosis is made by sequencing the ACTN1 gene. Its potential role in hematological malignancy predisposition remains unclear and should be clarified. Conclusion: We identified 11 patients with ACTN1-related macrothrombocytopenia diagnosed through pediatric probands. The aim was to underline the specificities of this entity, especially in children, and bring it to the knowledge of pediatricians.
Research center :
*French Reference Center for Inherited Platelet Disorders, Trousseau Hospital (AP-HP)
Disciplines :
Hematology
Author, co-author :
David, Bianca-Andreea  ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Language :
English
Title :
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia
Publication date :
November 2017
Journal title :
J Pediatr Hematol Oncol.
Volume :
39
Peer reviewed :
Peer reviewed
Available on ORBi :
since 10 January 2022

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