Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

Blood Transfusion

Volumn 15, Issue 5, 2017, Pages 487-488

  Daidone, Viviana ^a   Bury, Loredana ^b   Milan, Marta ^a   Galletta, Eva ^a   Gresele, Paolo ^b   Casonato, Alessandra ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THROMBOCYTE ANTIGEN; TRANSMEMBRANE ALPHA2B BETA3 COMPLEX; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; ALPHA2 INTEGRIN; ITGA2B PROTEIN, HUMAN;

ANEMIA; BLEEDING DISORDER; BLOOD CLOTTING PARAMETERS; BRAIN HEMATOMA; CASE REPORT; ECCHYMOSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GLANZMANN DISEASE; HETEROZYGOSITY; HUMAN; INFANT; ITGA2B GENE; LETTER; MUTATIONAL ANALYSIS; PETECHIA; PHENOTYPIC VARIATION; THROMBOCYTE FUNCTION; VACUUM EXTRACTION; ADULT; BLOOD; COMPLICATION; GENETICS; HEMOSTASIS; MALE; METABOLISM; PATHOLOGY; PEDIGREE; PHENOTYPE; THROMBOCYTE; THROMBOCYTE AGGREGATION;

ADULT; BLOOD PLATELETS; FEMALE; HEMOSTASIS; HUMANS; INFANT; INTEGRIN ALPHA2; MALE; PEDIGREE; PHENOTYPE; PLATELET AGGREGATION; SEQUENCE DELETION; THROMBASTHENIA;

EID: 85026650575     PISSN: 17232007     EISSN: None     Source Type: Journal    
DOI: 10.2450/2016.0055-16     Document Type: Letter

References (5)

1. Nurden AT, Fiore M, Nurden P., Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011; 118: 5996-6005.
2. Nurden AT, Pillois X, Nurden P. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. Expert Rev Hematol 2012; 5: 487-503.
3. Kannan M, Ahmad F, Yadav B.K., et al. Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation. Am J Clin Pathol 2008; 130: 93-8.
4. Li W, Liu JL, Li L.Y., Lu GX. [Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2011; 28: 251-5. [In Chinese.]
5. Bury L, Falcinelli E, Chiasserini D., et al. Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. Haematologica 2016; 101: 46-56.