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Congenital haemophilia
Congenital haemophilia is a rare bleeding disorder in which the coagulation system does not work properly to prevent bleeding. This impaired clot formation leads to excessive and prolonged bleeding caused by trauma or surgery or occurring spontaneously.1
Congenital haemophilia is caused by partial or complete deficiency of coagulation factor VIII in haemophilia A and factor IX in haemophilia B.2
Haemophilia A is the most common type, representing 80–85% of all haemophilia cases, while haemophilia B represents 15-20% of cases.1
According to the plasma level of coagulation factor VIII and factor IX, haemophilia is classified into mild, moderate, or severe.3
Approximately 40% of the persons with haemophilia A have the severe form of the disease, approximately 10% have the moderate form, and the remaining approximately 50% have the mild form.2
Based on new prevalence estimates of haemophilia obtained from the national patient registries of six high-income countries, the World Federation of Hemophilia (WFH) expects that the number of persons living with haemophilia may reach 818,928 worldwide for all haemophilia cases of varying severities and 278,200 for severe cases.4
The World Federation of Hemophilia (WFH) reports that the number of people diagnosed with haemophilia until 2021 is 256,840 worldwide and 6,505 in Egypt. 4
Congenital haemophilia is usually inherited1 but up to 50% of the cases may arise as de novo mutations without a previous family history.2
The genes for both coagulation factors VIII and IX are located on the X chromosome, which is one of the two sex chromosomes. Therefore, haemophilia mainly affects males, while Females are usually carriers, but rarely, they may be true haemophilia patients if they inherit two copies of the haemophilia gene.1
Most haemophilia carriers are asymptomatic5, while some carriers have symptoms of haemophilia, like males with haemophilia plus women-specific bleeding manifestations, such as prolonged or heavy menstrual bleeding.1
Driving change for life without limitations
Fortunately, recent innovations have reduced the burden of the treatment landscape for haemophilia and other rare bleeding disorders dramatically.1
We are committed to driving change for a future where everyone with haemophilia and other rare bleeding disorders can get the treatment they need and live a life with as few limitations as possible.2
Isaac Miller lives in the UK and has haemophilia A.
Living with haemophilia
In congenital haemophilia, most bleeds are serious and occur internally into joints, muscles, and mucous membranes, with the possibility of experiencing life-threatening bleeds, such as intracranial haemorrhage, which requires immediate access to treatment and medical care.1
Persons with severe haemophilia experience frequent spontaneous bleeding episodes into joints or muscles, which are uncommon in moderate haemophilia and rare in mild haemophilia. On the contrary, persons with moderate haemophilia experience prolonged bleeding after minor trauma or surgery, and severe bleeding occur in mild haemophilia after major trauma or surgery.1
Patients often recognise joint bleeds by experiencing tingling sensation and tightness within the joint area, which occurs before the onset of clinical symptoms, such as pain, swelling, warmth, and redness around the joint, limited range of motion, and movement difficulty.1
In the long-term, recurrent joint bleeding induces structural and inflammatory changes in the joint space, which lead to chronic synovitis, which eventually lead to progressive joint damage and chronic joint arthropathy.1
There are two main approaches to treating haemophilia with clotting factor replacement therapy:
- Episodic (on-demand) treatment, in which replacement therapy is given to treat bleeding episodes when they occur. However, the WFH no longer recommends this treatment option in the long term because it cannot prevent spontaneous bleeds and subsequent complications.1
- Preventative treatment (prophylaxis), in which replacement therapy is given regularly to prevent foreseen bleeding episodes, especially in joints, which would lead to chronic joint arthropathy and physical disability.1
40% of haemophilia cases are severe2 and need prophylactic treatment.1
In persons with severe haemophilia, bleeding symptoms are usually observed during the first year of life, especially when the child begins to crawl and walk, which prompts diagnosis. On the other hand, persons with moderate haemophilia might be diagnosed at older age during childhood3 and mild haemophilia until they are adults when they experience serious trauma or undergo surgical procedure.1
Life with haemophilia
256,840 people have haemophilia globally & 6,505 in Egypt.1
Haemophilia is a lifelong condition2 that has a significant psychosocial impact on persons living with haemophilia and their caregivers. A multinational survey conducted in 10 countries3 revealed that:
- 80% of adults with haemophilia reported a negative impact of haemophilia on employment3;
- 75% had moderate or extreme pain or discomfort4;
- 59% had limited mobility4;
- 46% had anxiety or depression4;
- 48% were registered as disabled3 and
- 43% had hepatitis C virus (HCV) and 18% had human immunodeficiency virus (HIV) with or without HCV3;
- 63% of parents of children with haemophilia reported a negative impact on their working life.3
Advancing treatments in haemophilia and in rare blood disorders
Our scientists are exploring new treatment solutions for haemophilia and rare blood disorders. These solutions are aimed at reducing the current treatment burden, and will be complemented by research into oral treatments and gene therapy.1
We strive for offering a better quality of life to people living with haemophilia and other rare bleeding disorders.
We often work in partnerships to discover novel targets, new compounds and technologies that address unmet medical needs.2
Our focus is on:
- Novel prophylactic agents in haemophilia
- Cell and gene-based therapy approaches
- Clinical assets in rare blood disorders such as sickle-cell disease
Today, our pipeline has exciting potential to ensure we are at the forefront of finding the next generation of new medicines.
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