Understanding haemophilia

Explore the world of haemophilia and approaches to treatment.

What is haemophilia?

Haemophilia is a rare, genetic disease that affects the body’s ability to properly form blood clots.1,2

In our bodies, clots are formed through a cascade of proteins. These proteins, known as clotting factors, work together to help blood clot properly and stop bleeding.2,3

In haemophilia, at least one of these factors is missing or at levels too low to be effective at forming a clot and stopping a bleed. People with haemophilia A have low levels of factor VIII. People with haemophilia B have low levels of factor IX.2,4

Symptoms of haemophilia include: bruising easily, nosebleeds, excessive bleeding following injuries or surgery, joint and muscle bleeding, and even spontaneous bleeding.1,2


Across the globe, more than 200,000 people live with haemophilia.5

Report on the Annual Global Survey 2021, World Federation of Hemophilia.


~79% haemophilia A
(factor VIII deficiency)


~16% haemophilia B
(factor IX deficiency)

In ~4% of haemophilia cases, type was either unknown or not reported.5

Report on the Annual Global Survey 2021, World Federation of Hemophilia.

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How does someone get haemophilia?

Haemophilia is a recessive trait, generally inherited at birth through the X chromosome. In rare cases, females can have two altered X chromosomes, while males can have haemophilia with only a single altered X chromosome.2,6

Because of this, the majority of cases are present in males. Females with only one altered X are considered carriers, but can experience haemophilia symptoms as well.2,5

Inheritance from female carrier2:

Inheritance from male with haemophilia2:

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How severities determine treatment options

A haemophilia diagnosis can range from mild to moderate to severe based on someone’s baseline factor level.1

A clotting factor level assay should be performed to determine haemophilia severity, anticipate symptoms, and guide treatment.2

Treatment options include1,7:

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Mild

Factor level 5%-40%4

Looks like

  • Bleeding issues occurring mostly after an injury4
  • Heavier bleeding during a dental procedure or menstruation1,8

Treatment considerations:

Because people with mild haemophilia are unlikely to have spontaneous bleeds, factor-based prophylaxis is not recommended.1,8

Moderate

Factor level 1%-5%4,9

Looks like

  • Bleeding easily after minor injuries4,9
  • Vaccine-related bleeds4,10
  • Bleeds related to trauma or surgical procedures4,10
  • Infrequent joint bleeding11

Treatment considerations:

People with moderate haemophilia use factor-based prophylaxis in addition to on-demand therapy to treat and prevent bleeds.1

Severe

Factor level Less than 1%4

Looks like

  • Spontaneous bleeding without injury1,9
  • Repeat joint and muscle bleeding1,9
  • Arthropathy, causing joint damage and pain9,12

Treatment considerations:

People with severe haemophilia may need frequent prophylactic therapy in addition to on-demand therapy to treat and prevent bleeds.1

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Treatment considerations for inhibitors

Another consideration is factor inhibitors, which are antibodies to factor that some people may develop. These inhibitors cause further complications around clotting and the ability to treat with factor replacement.1,2

If someone has 4% of clotting factor VIII activity, what’s their diagnosis?

Low factor VIII is associated with haemophilia A, and 4% clotting activity would be considered moderate.1,4

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Established therapies

Haemophilia requires lifelong care but thanks to the success of modern treatments, people with haemophilia are able to live longer, healthier lives. Therapy options available today may improve factor levels, prevent excessive bleeding, and may reduce the risk of long-term health concerns.1,4,13-16

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Factor replacement

Factor replacement therapy is a haemophilia treatment that is infused intravenously to increase factor levels.10

Depending on the treatment option and severity of symptoms, factor replacement can be taken on-demand or preventively. The dosage and frequency of treatment can also vary from person to person.1,17

Discover a factor replacement treatment option for:

Haemophilia A

Haemophilia B

Factor mimetic

Factor mimetic therapy is similar to factor replacement therapy, but differs in formulation and delivery. It mimics features of clotting factor VIII instead of replacing it.4

Given its unique structure, this treatment can be delivered weekly to monthly and subcutaneously. It cannot be used for on-demand treatment but functions as a prophylactic option.4

Gene therapy

Gene therapy for haemophilia is a one-time infusion for adult males that may offer long-term bleed protection. For some people, it may allow them to stop routine prophylaxis treatment.7,18

There are gene therapy options that can be used to treat either haemophilia A or B, where a functioning gene informs the body to produce either factor VIII or factor IX respectively.8,11,19-21

Learn more about gene therapy

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Evolving care

The haemophilia landscape is evolving through alternate treatment approaches such as rebalancing.19

Rebalancing is an investigational non-factor approach to restoring haemostasis (the process of limiting blood loss). It aims to inhibit anticoagulants (which promote blood flow) in order to improve clotting function.22,23

One anticoagulant being evaluated in clinical trials is tissue factor pathway inhibitor (TFPI) because it may limit clotting activity at an early stage in the clotting process.22,24

Rebalancing through TFPI inhibition is being explored for people with haemophilia A and B, and for those with and without inhibitors.10,22,23

Learn more about rebalancing

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Haemophilia challenges

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Life disruptions25

1 out of 3 people with haemophilia find storing, preparing, and mixing prophylaxis disruptive to their daily routine.25

Adherence issues6

About 1 out of 2 people with haemophilia experience worry over treatment issues.6

Venous access26,27

A 6-month, multicentre study in France found that 37% of people with haemophilia experienced venous access difficulty.26

Even in the general population, venous access can become challenging in later years.27

Joint pain12,28

For those with severe haemophilia, too many bleeds can lead to joint damage, and over time, mobility loss. Even young adults may experience haemophilic arthropathy.12,28

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+25

Pfizer has been committed to innovation in haemophilia for over 25 years29

Pfizer has a long history of supporting the haemophilia community, and we remain committed to innovation and continued research.

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References: 1. Srivastava A, et al. Haemophilia. 2020;26(suppl 6):1-158. 2. Centers for Disease Control and Prevention. Accessed August 28, 2024. https://www.cdc.gov/hemophilia/about/index.html 3. Smith SA, et al. Crit Rev Biochem Mol Biol. 2015;50(4):326-336. 4. Ozelo MC, et al. Res Pract Thromb Haemost. 2022;6(3):e12695. 5. World Federation of Hemophilia. Accessed August 26, 2024. https://www1.wfh.org/publications/files/pdf-2324.pdf 6. Brod M, et al. J Patient Rep Outcomes. 2023;7(1):17. 7. Valentino LA, et al. J Thromb Haemost. 2023;21(9):2354-2361. 8. Liras A, et al. Orphanet J Rare Dis. 2012;7:97. 9. Bolton-Maggs PH, et al. Lancet. 2003;361(9371):1801-1809. 10. Kizilocak H, et al. Clin Adv Hematol Oncol. 2019;17(6):344-351. 11. Lisowski L, et al. Res Pract Thromb Haemost. 2021;5(6):e12586. 12. O’Hara J, et al. Health Econ Rev. 2018;8(1):1. 13. Chowdary P. Drugs. 2018;78(9):881-890. 14. Miesbach W, et al. Haemophilia. 2019;25(4):545-557. 15. Chapin JC, et al. BioDrugs. 2018;32(1):9-25. 16. Peters R, et al. Nat Rev Drug Discov. 2018;17(7):493-508. 17. Marchesini E, et al. Biologics. 2021;15:221-235. 18. George LA. Blood Adv. 2017;1(26):2591-2599. 19. Batty P, et al. EHC Novel Treatment Review. 2024;1:1-53. 20. Prakash V, et al. Mol Ther. 2016;24(3):465-474. 21. Lheriteau E, et al. Blood Rev. 2015;29(5):321-328. 22. Ellsworth P, et al. Hematology Am Soc Hematol Educ Program. 2021;2021(1):219-225. 23. Mast AE, et al. J Thromb Haemost. 2022;20(6):1290-1300. 24. Chowdary P. Int J Hematol. 2020;111(1):42-50. 25. Tischer B, et al. Patient Prefer Adherence. 2018;12:431-441. 26. Gabriel J. Br J Nurs. 2017;26(14):S15-S23. 27. Guillon P, et al. Haemophilia. 2015;21(1):21-26. 28. Curtis R, et al. Am J Hematol. 2015;90(suppl 2):S11-S16. 29. Toole JJ, et al. Nature. 1984;312(5992):342-347.

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