Severe Hemophilia B

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

F9, F8, COX8A, AK3, AAVS1, F2, F3, EGF, ALB, F5, SMUG1, CCHCR1, EBP, EIF2AK1, AMT, CCRL2, ST14, TFPI, IFI30, TNFRSF11A, SACM1L, FAM72B, KRT20, DCXR, POLE3, SERHL, AASDHPPT, TP53, RN7SL263P, NBEAL1

F9, F8, COX8A, AK3, AAVS1, F2, F3, EGF, ALB, F5, SMUG1, CCHCR1, EBP, EIF2AK1, AMT, CCRL2, ST14, TFPI, IFI30, TNFRSF11A, SACM1L, FAM72B, KRT20, DCXR, POLE3, SERHL, AASDHPPT, TP53, RN7SL263P, NBEAL1, RIOX1, HPS6, FAM72A, RIOX2, VIPR1, SMN2, TLR4, FCGRT, CCT, MS4A1, CD38, CFTR, CGA, CTLA4, DBP, EMD, F11, FGG, SPRR2A, G6PD, GAD1, GCY, HLA-A, IL10, KRT31, MNT, TNFRSF11B, SOX3, H3P11

Drugs

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Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

Epidemiology

Severe hemophilia B accounts for around 40% of all cases of hemophilia B.

Clinical description

The biological activity of factor IX is below 1%.

Etiology

The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX.

Genetic counseling

Transmission is X-linked recessive.