Moderately Severe Hemophilia A

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Retrieved

2021-01-23

Source

Orphanet

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

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Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

Epidemiology

Moderately severe hemophilia A accounts for around 20% of all cases of hemophilia A.

Clinical description

The biological activity of factor VIII is between 1% and 5%. Spontaneous hemorrhages are rare.

Etiology

The disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII.

Genetic counseling

Transmission is X-linked recessive.