Symptomatic Form Of Hemophilia A In Female Carriers

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Retrieved

2021-01-23

Source

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Trials

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Genes

F8, F9, TFPI, F10, AK3, F2, VWF, COX8A, ST14, F5, F3, PROC, IL10, CCR5, AAVS1, HLA-DRB1, TNF, MS4A1, CCND1, GP1BA, G6PD, LMAN1, RBM45, KRT20, ABO, CPB2, VIPR1, PROCR, ISG20, IFNA2

F8, F9, TFPI, F10, AK3, F2, VWF, COX8A, ST14, F5, F3, PROC, IL10, CCR5, AAVS1, HLA-DRB1, TNF, MS4A1, CCND1, GP1BA, G6PD, LMAN1, RBM45, KRT20, ABO, CPB2, VIPR1, PROCR, ISG20, IFNA2, IL2, TGFB1, IL2RA, SELP, IL4, IFNL3, MAPK9, PF4, HAL, PROS1, FOXP3, STATH, PRNP, ADAMTS5, WDHD1, MTHFR, F7, AMBP, ABR, DMD, ALB, GH1, ARTN, DKK1, APOH, BPI, BRCA1, ABCB6, CD163, FCGR2C, TNFRSF11A, HAP1, TRBV16, IKBKG, SLC14A2, LAP, BTK, C4BPA, VEGFA, TPT1, C6, THBD, NT5C2, HFE, TRBV7-9, CALR, MIR1246, C20orf181, C4orf3, CA13, ASPG, AGRP, IL33, MCFD2, CARD14, FUNDC2, UPF3B, HPSE2, IMPACT, SCLY, SERPINA10, SOST, APC, ICOS, TRBC1, CA6, TRBV20OR9-2, PRDX2, FUT1, LTF, LRP1, F11, KRT7, KIT, FCGR2A, FCGR2B, CXCL8, IL6, UTS2R, HLA-A, IL1B, IFNG, GPT, ICAM1, HNF4A, HMOX1, GUSB, HLA-DRA, HLA-B, MBL2, MRC1, NFYA, NHS, TRB, TAL1, CD28, CD68, SPRR2A, SLC4A1, SELPLG, CLTC, CCL3L1, REST, PSMA7, CSF1R, CSF2, CTLA4, SERPINE2, DPP4, SERPINA5, SERPINE1, TNFRSF11B, MIR4521

Drugs

Adeno-associated viral vector serotype 5 containing a B-domain deleted variant of human coagulation factor VIII gene, Adeno-associated viral vector serotype 8 containing a functional copy of the codon-optimised F8 cDNA encoding the B-domain deleted human coagulation factor VIII, Anti-inhibitor coagulant complex ( FEIBA ), Antihemophilic factor / Von Willebrand factor complex (human) ( ALPHANATE, HUMATE -P ), Autologous dendritic cells incubated ex vivo with zebularine and factor VIII, Desmopressine acetate ( DESMOPRESSIN ACETATE AVENTIS BEHRING L.L.C., OCTIM, MINIRIN ), Efmoroctocog alfa ( ELOCTA, ELOCTATE ), Factor VIII mimetic bispecific antibody, Fitusiran, Human coagulation factor IX (antihemophilic B factor) ( BETAFACT, ALPHANINE, NONAFACT ), Human coagulation factor VIII (antihemophilic A factor) ( FACTANE ), Human monoclonal IgG1 antibody against tissue factor pathway inhibitor, Human monoclonal IgG2 antibody against tissue factor pathway inhibitor, Humanised monoclonal IgG4 antibody against tissue factor pathway inhibitor, Humanised monoclonal modified IgG4 antibody with bispecific structure targeting factors IX, IXa, X and Xa ( HEMLIBRA ), Long acting recombinantFactor VIIa-CTP3, Moroctocog alpha ( REFACTO AF ), Octocog alfa (liposomal), Octocog alpha ( ADVATE, HELIXATE NEXGEN, KOGENATE BAYER, KOVALTRY, IBLIAS ), Pegylated B-domain-deleted sequence-modified recombinant human factor VIII, Pegylated recombinant factor VIIa, Recombinant adeno-associated viral vector serotype 6 encoding the B-domain-deleted human factor VIII, Recombinant coagulation factor VIIa (rFVIIa) ( NOVOSEVEN, NOVOSEVEN RT ), Recombinant factor VIIa modified with three terminal repeats derived from the beta chain of human chorionic gonadotropin, Recombinant fusion protein linking human coagulation factor VIIa with human albumin (rVIIa-FP), Recombinant porcine factor VIII (B domain deleted) ( OBIZUR ), Sequence-modified human recombinant factor VIIa, Turoctocog alfa pegol ( ESPEROCT ), Vatreptacog alfa (activated), nonacog alfa ( BENEFIX ), recombinant AAV vector with hu37 serotype capsid (AAVhu37) encoding human FVIII, recombinant adeno-associated viral vector containing a bioengineered capsid and a codon-optimised expression cassette to drive the expression of the SQ form of a B-domain deleted human coagulation factor VIII, recombinant human coagulation factor VIII Fc - von Willebrand factor - XTEN fusion protein

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Symptomatic hemophilia A in female carriers is a form of hemophilia A (see this term) that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.

Epidemiology

Prevalence is unknown but this form of hemophilia is very rare.

Clinical description

Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally.

Genetic counseling

Transmission is X-linked recessive.