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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis
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    1. ClingenBaseline 24 Oct 2026
      patient 8

      Case#: Patient 8

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Not provided

      ParentalGenotype: Not provided

      CasePresentingHPOs: (HP:0000421, Epistaxis)

      PlateletAggregation: All patients had abnormal platelet aggregation studies prompting analysis of platelet glycoprotein expression by flow cytometry.

      ProteinExpression: Flow cytometry, 11 of 12 patients with GT had reduced antibody binding to GPIIb/IIIa

      CasePreviousTesting: Not provided

      PreviouslyPublished: Not provided

      Gene: ITGA2B

      Variant: c.1750C>T, p. (R584X)

      HGVS: NM_000419.5:c.1750C>T

      ClinVar: 2892 https://www.ncbi.nlm.nih.gov/clinvar/variation/2892/

      CAID: CA115834

      gnomAD: PopMax = 0.00008834 https://gnomad.broadinstitute.org/variant/17-44380004-G-A?dataset=gnomad_r4

      Variant: c.2671C>T, p. (Q891X)

      HGVS: NM_000419.5:c.2671C>T

      ClinVar: 953054 https://www.ncbi.nlm.nih.gov/clinvar/variation/953054/

      CAID: CA8602626

      gnomAD: PopMax = 0.000007390 https://gnomad.broadinstitute.org/variant/17-44375647-G-A?dataset=gnomad_r4

      InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:CompoundHeterozygous ClinVarID:2892 MultipleGeneVariants ProteinExpression:MinimalInformation PlatletAggregation:MinimalInformation ClinVarID:95305 CAid:CA8602626 CAid:CA115834 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    pmc.ncbi.nlm.nih.gov/articles/PMC9810257/