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    Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
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    1. ClingenBaseline 21 Oct 2026
      A 56-year-old Japanese female

      Case1: Female, 56 years old, Japanese

      DiseaseAssertion: Glanzmann thrombasthenia (Diagnosed at 21 years of age)

      FamilyInfo:

      ParentalGenotype:

      CasePresentingHPOs: HP:0004406, HP:0000225

      (Recurrent epistaxis, gingival bleeding)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry demonstrated significantly decreased expression of CD41 and CD61 to less than 20% of normal levels (See Figure 2)

      PlateletAggregation: An in vitro assay revealed no platlet aggregation in response to agonists except ristocetin.

      CasePreviousTesting: DNA sequencing analysis revealed compound heterozygous mutations confirming a diagnosis of Glanzmann thrombasthenia

      Gene: ITGA2B

      Variant: NM_000419.3:c.2602-3C>G and NM_000419.3:c.641T>C (p.Leu214Pro)

      LegacyVariant: N/A

      ClinVar: 2893 and 2901

      CAiD: CA10575472 and CA115848

      gnomAD: MAF in East Asian population 0.00006523 http://gnomad.broadinstitute.org/variant/17-42453087-G-C

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:2893 ClinVarID:2901 CAiD:CA10575472 CAiD:CA115848 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    link.springer.com/article/10.1007/s12185-016-2096-x