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Therapeutic Areas and Products

Hematology

Hemophilia A and B

4 Hemophilia Disease State Text Boxes with the word Hemophilia in the center

Mode of Inheritance

Hemophilia is a predominately male, X-linked genetic disorder.

Inherited or spontaneous mutations in the F8 (hemophilia A) or F9 (hemophilia B) gene result in a deficiency or absence of functional coagulation factor VIII (FVIII) or coagulation factor IX (FIX), respectively.

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.

image of inheritance chart with one male, female, and four children vectors

Prevalence

Hemophilia A

Estimated prevalence at birth is 24.6 cases per 100,000 males for all severities of hemophilia A (9.5 cases for severe hemophilia A).

Hemophilia B

Estimated prevalence at birth is 5.0 cases per 100,000 males for all severities of hemophilia B (1.5 cases for severe hemophilia B).

Diagnosis

Image of diagnosis chart for FVIII deficiency or FIX deficiency

Clinical Features and Classification

Mild

>5% - 40% of Normal Activity Levels

  • Spontaneous bleeding rare
  • Often diagnosed late
  • Excessive/prolonged bleeding after minor injuries, surgeries, or trauma

Moderate

1% - ≤5% of Normal Factor Activity Levels

  • Occasional spontaneous bleeding
  • Bleeding into joints and muscles after minor injuries
  • Excessive/prolonged bleeding after minor injuries, surgeries, or trauma

Severe

<1% of Normal Factor Activity Levels

  • Frequent spontaneous bleeding (~2-5 per month)
  • Spontaneous bleeds into joints and soft tissues
  • Excessive/prolonged bleeding after minor injuries, surgeries, trauma, or dental work

Disease Burden


Joint bleeds account for 70-80% of bleeds in patients with hemophilia.Cross section of a Healthy Joint and a Joint with Hemophilia and Graph depicting annual number of Joint Bleeds According to FVIII Activity

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 A, 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.

Management Strategies

Hemophilia A
FVIII concentrates are the treatment of choice.
Each unit of FVIII/kg infused will raise the plasma FVIII level approximately 2 IU/dl.
Desmopressin (DDAVP) may be utilized in patients with mild or moderate disease.
Individual response should be tested prior to therapeutic use (significant differences between individuals).

Hemophilia B
FIX concentrates are the treatment of choice.
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.

Category Treatment
On demand Episodic replacement therapy given at the time of clinically evident bleeding
Prophylaxis Continuous/regular replacement therapy given to avoid bleeding
Prevention Replacement therapy given to prevent bleeding for certain high risk periods (eg, surgery)

Treatment Guidelines

1. Callaghan MU, Kaufman RJ. Synthesis and Secretion of FVIII. Rec Adv Thromb Hemost. 2008;45-67. 2. Mannucci PM, Tuddenham EG. The hemophilias – from royal genes to gene therapy. N Engl J Med. 2001;344(23):1773-1779. 3. Srivastava A Santagostino E, Dougall A, , et al. WFH Guidelines Hemophilia. Hemophilia. 2020;26(S6):1–158. 4. Srivastava, et al. WFH Guidelines Hemophilia. Hemophilia 2020;26(S6):1–158 5. Rodriguez-Merchan. Prevention of musculoskeletal complications of hemophilia. Adv Prev Med. 2012;2012:201-271; 6. Clausen, et al. Similar bleeding phenotype in young children with Hemophilia A or B. Haemophilia 2014;20(6):747–755; 7. Den uijl, et al. Clinical severity of haemophilia A. Haemophilia. 2011;17(6):849-853. 8. Srivastava A Santagostino E, Dougall A, , et al. WFH Guidelines Hemophilia. Hemophilia. 2020;26(S6):1–158.

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