What is haemophilia?

Haemophilia is a serious, inherited bleeding disorder in which a person’s blood does not clot properly, leading in severe cases to uncontrolled bleeding, either spontaneously or after minor trauma. While a person with haemophilia may not bleed more or faster than a person without haemophilia, they bleed for a longer period of time1 and the recurrent bleeds can lead to significant impairment, especially in their joints.  



Genetic diseases

As an inherited disorder, haemophilia is passed down from parent to child and is carried on the X chromosome as a recessive trait, meaning that it is usually transmitted from mother to son. While it is possible for females to be affected by haemophilia, this is very rare and the largest portion of the haemophilia population is male.



How many of patients are there?

Haemophilia A is the most common type of haemophilia2, affecting approximately 320,000 people around the world.3,4 People with haemophilia A either lack or have low levels of an essential protein known as factor VIII that plays a crucial role in blood clotting.


The nature of the disease
When a bleed occurs in a healthy person, factor VIII binds to factors IXa and X, which are critical steps in the formation of a blood clot and help stop bleeding. However, in a person with haemophilia A, the lack or decrease of factor VIII interrupts this process and affects the ability to form a clot.

Haemophilia_3

Based upon the level of factor VIII that is missing from a person’s blood,5 haemophilia A is classified in severity into three categories – mild, moderate and severe. Approximately 50 – 60 per cent of people with haemophilia A have a severe form of the disorder6 and these people usually bleed frequently – once or twice a week – into their joints or muscles.7 These bleeds can present a significant health concern as they often cause pain and can lead to chronic swelling, deformity, reduced mobility, and long-term joint damage.8 In addition to impacting a person’s quality of life,9 these bleeds can be life threatening if they go into vital organs, such as the brain.10,11

Symptoms and diagnosis
Given the hereditary nature of haemophilia, the disorder is often diagnosed when patients are very young. Signs and symptoms may include:

Live with haemophilia the burden of treatment?
Life for people with haemophilia and their caregivers is often centred on treatment infusions, taking up a large amount of time and having a significant impact on their lives.

People with haemophilia A report difficulty balancing treatment with daily life, so compliance can be a challenge, leaving them vulnerable to potentially dangerous bleeds.




References
1 Canadian Hemophilia Society. What is hemophilia? 2016. Last accessed 08 June 2016: http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/what-is-hemophilia/.
2 WFH. Guidelines for the management of hemophilia. 2012. Last accessed 08 June 2016 http://www1.wfh.org/publications/files/pdf-1472.pdf.
3 WFH. Guidelines for the management of hemophilia. 2012. Last accessed 08 June 2016: http://www1.wfh.org/publications/files/pdf-1472.pdf.
4 Berntorp E, Shapiro AD. Modern haemophilia care. The Lancet 2012; 370:1447-1456
5 WFH. Severity of hemophilia. 2012. Last accessed on 08 June 2016: http://www.wfh.org/en/page.aspx?pid=643
6 WFH. Guidelines for the management of hemophilia. 2012. Last accessed 08 June 2016 http://www1.wfh.org/publications/files/pdf-1472.pdf.
7 WFH. Guidelines for the management of hemophilia. 2012. Last accessed 08 June 2016 http://www1.wfh.org/publications/files/pdf-1472.pdf.
8 Franchini M, Mannucci PM. Hemophilia A in the third millennium. Blood Rev 2013:179-84.
9 Flood, E et al. Illustrating the impact of mild/moderate and severe haemophilia on health-related quality of life: hypothesised conceptual models. European Journal of Haematology 2014; 93: Suppl. 75, 9–18.
10 Young G. New challenges in hemophilia: long-term outcomes and complications. Hematology Am Soc Hematol Educ Program 2012; 2012: 362–8.
11 Zanon E, Iorio A, Rocino A, et al. Intracranial haemorrhage in the Italian population of haemophilia patients with and without inhibitors. Haemophilia 2012; 18: 39–45.
12 WFH. Symptoms and diagnosis. 2012. Last accessed on 09 June 2016: http://www.wfh.org/en/page.aspx?pid=640
13 Elder-Lissai A, Hou Q, Krishnan S. The Changing Costs of Caring for Hemophilia Patients in the U.S.: Insurers’ and Patients’ Perspectives. Presented at: American Society of Hematology Annual Meeting; December 6-9, 2014; San Francisco, CA. Abstract # 199.
14 Remor, E. Predictors of treatment difficulties and satisfaction with haemophilia therapy in adult patients. Haemophilia 2011; 17, e901-e905.
15 Hacker MR et al. Barriers to compliance with prophylaxis therapy in haemophilia. Haemophilia 2001; 7: 392-6.
16 Astermark, J. Overview of Inhibitors. Semin Hematol 2006; 43 (suppl 4):S3-S7.
17 Whelan SF, et al. Distinct characteristics of antibody responses against factor VIII in healthy individuals and in different cohorts of hemophilia A patients. Blood 2013; 121: 1039–48.
18 Gomez K, et al. Key issues in inhibitor management in patients with haemophilia. Blood Transfus. 2014; 12: s319–s329.
19 Berntorp, E. Differential response to bypassing agents complicates treatment in patients with haemophilia and inhibitors. Haemophilia. 2009; 15: 3-10.