Hemophilia — Genes & Biomarkers
Biomarker / Gene
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GENES
BIOMARKERS
F8
F9
VWF
F11
SERPINE1
PROS1
Hemophilia A
Hemophilia B
FVIII carrier / modifier
Hemophilia C
PAI-1 / fibrinolysis
Protein S cofactor
FVIII / FIX Activity
Inhibitor Titer
aPTT
TGT (ETP)
VWF Antigen & Activity
Ferritin + hsCRP
Liver Function
One-stage or chromogenic
Nijmegen-Bethesda assay
Global intrinsic pathway
Calibrated thrombogram
VWF:Ag + VWF:RCo/GPIbM
Joint inflammation markers
ALT, AST, GGT panel
Pathogenic variant
(intron 22 inv. / large del.)
Pathogenic variant
(Leyden var.: puberty ↑)
Low VWF / type 1 VWD
co-inherit. + blood type O
Loss-of-function variant
(poor phenotype prediction)
5G/5G genotype
(low PAI-1, rapid clot lysis)
Deficiency variant
(protective in hemophilia)
<1% (severe); low trough
before next infusion
>5 BU/mL (high-titer)
Anti-FVIII antibodies
Prolonged >35 seconds
beyond factor level
Low endogenous thrombin
potential (ETP)
Low VWF:Ag or VWF:RCo
(blood type O risk)
hsCRP >1.0 mg/L
Ferritin >150 ng/mL (men)
ALT/AST >2–3× ULN
Elevated GGT
Genetic counseling; ITI
when inhibitor detected
Extended half-life FIX
Watchful waiting (Leyden)
DDAVP responsiveness test
Raise FVIII trough targets
Bleeding history review
Tranexamic acid first-line
Antifibrinolytic guidance
Tranexamic acid (high-risk)
Specialist hemostasis review
Adjust prophylaxis targets
Trough monitoring
DDAVP (mild hemophilia A)
Immune tolerance induction
(12–24 months; 60–70%)
Inhibitor testing; LFT
Medication review
Platelet function testing
Full coagulation workup
Aerobic exercise (VWF rises)
Raise FVIII trough targets
Prophylaxis optimization
Radiosynovectomy (synovitis)
Mediterranean diet
Alcohol elimination; HCV DAA
Gene therapy (AAV5)
Emicizumab prophylaxis
Etranacogene dezaparvovec
Fitusiran (RNAi)
VWF/FVIII concentrates
Tranexamic acid (mucosal)
FXI concentrate (Europe)
Fresh frozen plasma
Tranexamic acid
Epsilon-aminocaproic acid
Comprehensive genetic panel
Primarily prognostic
Extended half-life factor
Emicizumab (non-factor)
Emicizumab prophylaxis
aPCC / NovoSeven (bleeds)
Vitamin K2 MK-7 100–200 mcg
(nutritional deficiency only)
CAT assay (hemostasis center)
ROTEM / TEG viscoelastic
DDAVP; VWF/FVIII concentrates
Tranexamic acid (mucosal)
Curcumin 500–1000 mg/day
Cold therapy; TENS units
Silymarin 420–600 mg/day
NAC 600 mg twice daily