Mild Hemophilia B

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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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Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

Epidemiology

Mild hemophilia B accounts for around 30% of all cases of hemophilia B.

Clinical description

The biological activity of factor IX is between 5 and 40%. Spontaneous hemorrhages do not occur.

Etiology

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

Genetic counseling

Transmission is X-linked recessive.