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First novel Pathogenic Variant in ITGA2B in a Ecuatorian Patient with Glanzmann Thrombasthenia

1Hospital San Pedro de Alcantara. Complejo Hospitalario Universitario de Cáceres, Hematology, Cáceres, Spain, 2Hospital Universitario de Salamanca, Hematology, Salamanca, Spain, 3Cancer Research Center - CSIC - Instituto de Investigación Biomédica de Salamanca (IBSAL) - University of Salamanca, Salamanca, Spain

Abstract Number: PB1730

Meeting: ISTH 2020 Congress

Theme: Platelets and Megakaryocytes » Platelet Receptors

Background: Glanzmann thrombasthenia (GT) is an autosomal recessive platelet disorder, caused by defects of the platelet integrin αIIbβ3 (GPIIb/IIIa) resulting from pathogenic mutations in either ITGA2B or ITGB3. It is characterized by spontaneous mucocutaneous bleeding. The molecular features of GT in equatorian population have not been identified so far.

Aims: We describe the clinical and molecular features of a ecuatorian patient with GT.

Methods: A ecuatorian woman thirty years old, with clinically suspected bleeding disorder, was derived at the Hematology department, San Pedro de Alcántara Hospital, Cáceres, Spain. GT diagnosis was done based on clinical and hematological parameters as well as genetic analysis by means of HTS (high-throughput sequencing) targeted gene panel, realized in Hematology department, Universitario Salamanca Hospital.

Results: The patient presented with severe bleeding symptoms (ISTH-BAT bleeding score 12). Flow cytometry to assess the surface GPIIb/IIIa complex showed absent expression, consistent with the severe type I phenotype. By HTS, we successfully identified a mutant alleles in ITGA2B: the patient was homozygous for the c.C1229A (p.P410H). This variant has never been previously described.

Conclusions: We report a novel variant expanding the genotypic spectrum of ITGA2B causing GT. In our knowledge, this is the first variant in ITGA2B identified in equatorian population.
Funding: ISCIII (PI17/01966], GRS (GRS2061A/19), Fundación Mutua Madrileña (AP172142019), Premio López Borrasca (2019).

To cite this abstract in AMA style:

Bermejo N, Bastida JM, Moriano B, Espina M, Ibáñez F, Benito R, Marín-Quílez A, Ferré O, Arcos MJ, Bañas H. First novel Pathogenic Variant in ITGA2B in a Ecuatorian Patient with Glanzmann Thrombasthenia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/first-novel-pathogenic-variant-in-itga2b-in-a-ecuatorian-patient-with-glanzmann-thrombasthenia/. Accessed January 21, 2022.

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