Severe Hemophilia B
Watchlist
Retrieved
2021-01-23
Source
Trials
—
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
Adeno associated virus with modified transthyretin and sequence encoding factor IX variant gene,
Adeno-associated viral vector containing the human factor IX gene,
Albutrepenonacog alfa
(
IDELVION
)
Adeno associated virus with modified transthyretin and sequence encoding factor IX variant gene,
Adeno-associated viral vector containing the human factor IX gene,
Albutrepenonacog alfa
(
IDELVION
),
Anti-inhibitor coagulant complex
(
FEIBA
),
Antihemophilic factor / Von Willebrand factor complex (human)
(
ALPHANATE,
HUMATE -P
),
Desmopressine acetate
(
DESMOPRESSIN ACETATE AVENTIS BEHRING L.L.C.,
OCTIM,
MINIRIN
),
Eftrenonacog alfa
(
ALPROLIX
),
Fidanacogene elaparvovec,
Fitusiran,
Human coagulation factor IX (antihemophilic B factor)
(
BETAFACT,
ALPHANINE,
NONAFACT
),
Humanised monoclonal IgG4 antibody against tissue factor pathway inhibitor,
Lentiviral vector encoding human coagulation factor IX,
Long acting recombinantFactor VIIa-CTP3,
Marzeptacog alfa (activated),
Moroctocog alpha
(
REFACTO AF
),
Octocog alpha
(
ADVATE,
HELIXATE NEXGEN,
KOGENATE BAYER,
KOVALTRY,
IBLIAS
),
Pegylated recombinant factor VIIa,
Pegylated recombinant human factor IX
(
REFIXIA
),
Recombinant adeno-associated viral vector containing a codon-optimized Padua derivative of human coagulation factor IX cDNA,
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),
Sequence-modified human recombinant factor VIIa,
Vatreptacog alfa (activated),
nonacog alfa
(
BENEFIX
),
nonacog gamma
(
RIXUBIS
),
recombinant adeno-associated viral vector serotype S3 containing codon-optimised expression cassette encoding human coagulation factor IX variant,
recombinant human factor IX protein modified with three point mutations
Registered!
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.