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    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
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    1. ClingenBaseline 25 Oct 2026
      The p.Pro521Leu substitution (patient P3)

      Case#: P3 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: Father was tested; has mild HA

      CasePresentingHPOs: HP:0003125, HP:0001928

      CaseHPOFreeText: Low FVIII levels (significant decrease in FVIII:C (48.4% ± 6.1, P < 0.01) and FVIII:Ag (36.6% ± 2.7, P < 0.01)), abnormal blood coagulation

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection and in silico analysis were also performed.

      Gene: F8

      Variant: NM_000132.4:c.1562C>T

      CAID: CA414912242

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414912242 Zygosity:Heterozygous ParentalConfirmation:Paternity inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651