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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2021
Symbol F8D
Location Xq28
Name hemophilia A, F8 deficiency
Corresponding gene F8
Main clinical features
  • bleeding disorder caused by a deficiency in the activity of coagulation factor VIII
  • variable phenotype of hemorrhage into joints and muscles, easy bruising, and prolonged bleeding from wounds
  • severity and frequency of bleeding in hemophilia A is inversely related to the amount of residual factor VIII (<1%, severe; 2-5%, moderate; and 5-30%, mild)
  • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/loss of function intron 22 inversion, 36 p100 of the cases
    missense   abnormal protein/loss of function 38 p100 of the cases
    insertion-deletion   abnormal protein/loss of function 10 p100 of the cases
  • coagulation factor VIIIc, procoagulant component (F8C) with 45% mutations due to an inversion event involving F8A and F8B, see symbols
  • hemophilia A-causing variants within F8 exon 19, coding for amino acids of the FVIII A3 domain mainly involved in the interaction of FVIIIa with FIXa, and importantly, F8 exon 19 is poorly defined and harbors several putative splicing regulatory elements, suggesting that missense variants may have a combined effect on both splicing process and protein features (PMID: 34242570))