Today, the Danish family consists of 275 known persons, all of whom are the offspring of six original proband siblings born in the middle of the nineteenth century ( Fig 1); at present, 28 living cases of mild haemophilia are known in the family. A cousin-to-cousin marriage of an affected male haemophiliac and an obligate carrier resulted in four sisters homozygous for the haemophilic mutation.
Case#: 8, male
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Proband's mother and sister are confirmed carriers of hemophilia
ParentalTesting: Mother was tested and found to be a carrier of hemophilia
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%, FVIII:Ag = 25%, assay discrepancy present (OSA>CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: For exons 1–13 and 15–26, PCR primers were designed for denaturing gradient gel electrophoresis (DGGE) and exon 14 was amplified in four overlapping fragments and subsequently sequenced. VWF:Ag was tested and found to be within normal ranges.
Gene: F8
Variant: NM_000132.3:c.694A>T
LegacyVariant:
ClinVar: No
CAID: CA414919124
gnomAD: