Case: 21, F, 52, Iranian

DiseaseAssertion: VWD type 3

FamilyInfo: Consanguinity: Yes

ParentalGenotype: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe

CaseNotHPOs: n/a

CaseNotHPOFreeText: Anti-VWF alloantibodies: 10

CasePreviousTesting: n/a

Gene: VWF

Variant:

4036C→T (Gln1346X), Exon 28, Homozygous

Note: One unit (U) of alloantibody to VWF is the concentration that binds 50% of the VWF added to the system, with the total potency calculated as the reciprocal of the dilution containing 1 anti-VWF U (total U).