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This European website, initiated and developed by CSL Behring, has two separate sections with the aim to provide information on haemophilia for an international audience, either to European healthcare professionals or to the general public.*
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Living with haemophilia in the modern era
Current management strategies have enabled people with haemophilia to live healthier and more active lives1
Living With Haemophilia Today
Scientific Advancements for Treating Haemophilia Have Come a Long Way, and Researchers Continue to Innovate.
Unlike just two generations ago, many people living with haemophilia are able to live a near-normal life. Thanks to ongoing advances in modern medicine, haemophilia treatments have improved over the decades, becoming better at managing the condition.1 Regular infusions of clotting factors enable people with haemophilia to live more active lives,2 however, haemophilia symptoms persist life-long and gradually progress.3
Many individuals with moderate and severe forms remain vulnerable to spontaneous and/or traumatic bleeding into muscles, internal organs and joints,2,4,5 even when receiving prophylactic therapy.3 Sometimes these bleeds can be life-threatening4 and possibly lead to permanent physical limitations.2,5
People with haemophilia often deal with chronic pain, which can severely impact quality of life.6 In addition, managing the disease and symptoms are associated with significant burden and stress, impacting many aspects of life5,7 such as education and employment.8,9
Do you know?
The Realities of Living With Haemophilia
Modern treatments have transformed the lives of people with haemophilia, allowing them to engage in daily activities to an extent not possible only 50 years ago.1,10 When comparing the quality of life for haemophilia today with previous generations, it’s hard not to be optimistic, even though certain limitations associated with current therapeutic options still persist.2,5-7,9 Continuous scientific development is focused on ensuring that the negative consequences of these remaining limitations will not continue in the future.11
Physical Limitations
Bleeding events occurring in the muscles, internal organs and joints2,4,5 can lead to permanent,2 acute and/or chronic pain.6,9 A survey of people with haemophilia found that only 10% said they had no pain in the past month.6 Both symptoms of pain and joint deterioration have severe impacts to quality of life.6,7,9
Mental Health
Managing this chronic condition causes some to experience burdens, such as anxiety and depression. In fact, more than a third of people with haemophilia have anxiety and/or depression and among those seeking psychological treatment, 64%-71% said they were seeking help for haemophilia-related problems.9
Burdensome Treatment Schedule
The injection schedule of prophylactic infusions and the responsibility of mixing and managing medications requires life-long dedication. In a world-wide survey, only a quarter of participants said they used their medications as prescribed.9
Haemophilia History
Innovation is a Key Component to Successful Haemophilia Management
Progress is essential to ensure that anyone with a chronic condition is living the best life possible.12 Haemophilia care would not have come to where it is today without continuous improvements.13 Even though there has been substantial progress made, additional advancements will likely allow people with haemophilia to live even more active, fulfilled lives in the near future.2,4
Progress in haemophilia through time
1803
Discovery of an Inherited Bleeding Condition
Dr. John Conrad Otto realized there was an inherited bleeding condition which predominately affected boys. He traced the condition to a woman who settled near Plymouth, New Hampshire, United States sometime in 1720-1730.14
1828
Haemophilia Gets its Name
A scientist named Hopff first used the word ‘haemophilia’ or love of blood to describe a bleeding condition in a thesis published at the University of Zurich, Switzerland.14
1837
The Royal Disease
A haemophilia-causing gene was passed from Queen Victoria, who was crowned the Queen of England in 1837, to the Russian, German and Spanish royal families.14
1944
The Identification of Two Subtypes of Haemophilia
Dr. Alfredo Pavlovsky in Buenos Aires, Argentina found that two of his patients with a bleeding condition did not have the same deficient proteins, implying there are two distinct types of haemophilia.14
1952
Christmas Disease Publication
Christmas disease was first identified by Dr. Rosemary Biggs in a patient named Stephen Christmas. Today Christmas disease is called Haemophilia B.15
1957
Few Treatment Options for Patients
In the 1940s and 1950s, the only available treatment was whole blood transfusion. These transfusions did not contain enough factor replacement, so people used bed rest, leg braces and compresses in an attempt to decrease bleeding episodes. This was far from adequate, and people only survived on average to the age of 20.13
1960s-1970s
Development of Stable, Concentrated Formations of Clotting Factors
A method to produce concentrated clotting factors was developed. These stable concentrates come in the form of a powder. Now, people with haemophilia could store their medication and administer clotting factors at home.2
1973
New Method Developed to Detect Haemophilia Carriers
Drs Bruce Bennett and Oscar D. Ratnoff found a technique which could detect whether a woman was a carrier of haemophilia. This discovery improved the detection rate for haemophilia A from ~25% to 90%.16
1992-1999
The EMA and FDA Approve the First Engineered Recombinant Factor Product
The European Medicines Agency (EMA) and United States (US) Food and Drug Administration (FDA) approved the first genetically engineered factor IX (EMA 1997; FDA 1997) and later factor VIII (EMA 1999; FDA 1992) replacement therapy, respectively.2,17,18
2001
2015-2021
Unprecedented Progress in Available Therapeutics for Haemophilia
2022-PRESENT
First Gene Therapies for Haemophilia Approved in Europe and in the USA
In 2022 and 2023, the first adeno-associated virus vector-based gene therapies for the treatment of adults with haemophilia A and B were approved in Europe and in the USA.24,25,26
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Home
Every step has been evolving the science of gene therapy in haemophilia
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Available Treatments for Haemophilia
How have treatment options for patients with haemophilia advanced over the years and what options are currently available?
References
- The Haemophilia Society. Haemophilia. https://haemophilia.org.uk/bleeding-disorders/haemophilia-a-and-b/. Accessed November 24, 2021.
- National Organization for Rare Disorders (NORD). Rare Disease Database-Hemophilia B. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed October 27, 2021.
- Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015;125(13):2038-2044.
- National Organization for Rare Disorders (NORD). Rare Disease Database-Hemophilia A. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed October 27, 2021.
- De la Corte-Rodriguez H, Rodriguez-Merchan EC. The ICF (International Classification of Functioning, Disability and Health) developed by the WHO for measuring function in hemophilia. Expert Rev of Hematol. 2016;9:7.
- Buckner TW, Batt K, Quon D, et al. Assessments of pain, functional impairment, anxiety, and depression in US adults with hemophilia across patient-reported outcome instruments in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study. Eur J Haemotol. 2018;100(suppl. 1):5-13.
- Pinto PR, Paredes AC, Moreira P, et al. Emotional distress in haemophilia: Factors associated with the presence of anxiety and depression symptoms among adults. Haemophilia. 2018:1-10.
- Cutter S, Molter D, Dunn S, et al. Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. Eur J Haematol. 2017.98:18-24.
- Witkop M, Guelcher C, Forsyth A, et al. Treatment outcomes, quality of life, and impacts of hemophilia on young adults (aged 18-30 years) with hemophilia. Am J Hematol. 2015;90(S2):S3-S10.
- Khair K, Holland M, Bladen M, et al. Study of physical function in adolescents with haemophilia: the SO-FIT study. Haemophilia. 2017;1-8.
- Perrin GQ, Herzog RW, Markusic DM. Update on clinical gene therapy for hemophilia. Blood. 2019;133(5):407-414.
- Grady PA, Gough LL. Self-management: a comprehensive approach to management of chronic conditions. Framing Health Matters. 2014;104(8):e25-e31.
- Hemophilia Federation of America (HFA). Bleeding Disorders Historical Timeline. https://www.hemophiliafed.org/history-of-bleeding-disorders/. Accessed July 14, 2023.
- Ingram GIC. The history of haemophilia. J Clin Path. 1976;29:469-479.
- Biggs R, Douglas AS, Macfarlane RG, et al. Christmas disease a condition previously mistaken for haemophilia. Br Med J. 1952;2(4799):1378-82.
- Bennett B, Ratnoff OD. Detection of the carrier state for classic hemophilia. New Engl J Med. 1973;288(7):342-345.
- European Medicines Agency (EMA). BeneFIX. https://www.ema.europa.eu/en/medicines/human/EPAR/benefix. Accessed November 30, 2021.
- European Medicines Agency (EMA). ReFacto AF. https://www.ema.europa.eu/en/medicines/human/EPAR/refacto-af. Accessed November 30, 2021.
- Tagliaferri A, Rivolta GF, Iorio A, et al. Mortality and causes of death in Italian persons with haemophilia, 1990-2007. Haemophilia. 2010;16:437-446.
- Garber K. rFactor VIII deficit questioned. Nat Biotech. 2000;18:1133.
- Srivastava A, Santagostino E, Dougall A, et al. WFH guideline for the management of hemophilia, 3rd edition. Haemophilia. 2020;00:1-158.
- Nathwani AC, Reiss UM, Tuddenham EGD, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med. 2014;371:1994-2004.
- Rangarajan S, Walsh L, Lester W, et al. AAV5-Factor VIII gene transfer in severe hemophilia A. N Engl J Med. 2017;377(26):2519-2530.
- European Medicines Agency (EMA). Roctavian. https://www.ema.europa.eu/en/medicines/human/EPAR/roctavian-0. Accessed January 28, 2023.
- Food and Drug Administration. Approved Cellular and Gene Therapy Products. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/approved-cellular-and-gene-therapy-products. Accessed September 5, 2023.
- European Medicines Agency (EMA). Hemgenix. https://www.ema.europa.eu/en/medicines/human/EPAR/hemgenix. Accessed July 14, 2023.