a woman diagnosed as a HA carrier
Case2: Female patient, blood group O
DiseaseAssertion: Severe Hemophilia A from de novo mutation
FamilyInfo: Family history of severe Hemophilia A, Son diagnosed with severe HA, Sibling has intron 22 inversion on F8 gene
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeRext: aPTT ratio 1.16 (within normal range ratio), FVIII:C 48% (low-normal)
CasePreviousTesting: Molecular analysis that excluded intron 22 inversion (HA carrier), tested for intron 22 inversion (confirmed negative), tested for intron 1 inversion (found negative), sequenced the whole coding region of the F8 gene(c.1753-1G>A mutation found)
Gene: F8
Variant: NM_000132.3:c.1753-1G>A
ClinVar: NA
CAID: CA414911340
gnomAD: Not reported