Hemophilia B is caused by a deficiency or absence of functional coagulation factor IX
Hemophilia B occurs in approximately 1 in 30,000 male births
Primary symptom is uncontrolled, often spontaneous bleeding in different areas of the body
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Hemophilia B
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1. Berntorp E, Shapiro AD. Lancet.2012; 379(9824):1447–56; 2. US CDC/ATHN Hemophilia community count, March 2022
Hemophilia is a predominately male, X-linked genetic disorder.
Inherited or spontaneous mutations in the F9 gene result in a deficiency or absence of functional coagulation factor IX (FIX).
70% of hemophilia patients inherit the faulty gene; however, 30% are spontaneous and occur in patients with no family history of the disease.
The majority of carriers (XX) are asymptomatic.
Callaghan & Kaufman. Rec Adv Thromb Hemost 2008;45–67.
Mannucci et al. N Engl J Med 2001;344(23):1773–9.
Srivastava et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020
Srivastava et al. Haemophilia 2013;19:e1–47.
Joint bleeds account for 70-80% of bleeds in patients with hemophilia.
As little as one joint bleed can lead to irreversible joint damage.
Prophylaxis initiated prior to the onset of arthropathy has been shown to preserve joint function in adulthood.
High trough levels are important to prevent bleeds and protect joints; in patients with hemophilia B, those with low factor levels (<5%) have the highest risk for joint bleeds, while those with factor levels of ≥15% had a very low risk approximating no expected joint bleeds.
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Rodriguez-Merchan. Adv Prev Med. 2012;2012:201-271; Clausen, et al. Haemophilia 2014;20(6):747–755; Den uijl, et al. Haemophilia. 2011;17(6):849-853.
Gene therapy is a one-time treatment that may help reduce or eliminate the need for FIX prophylactic infusions
FIX concentrates are the current standard of care
The use of pure FIX concentrates is preferable for treatment over PCC.
Each unit of FIX/kg infused will raise the plasma FIX level approximately 1 IU/dL.
