Since 1989, patient groups worldwide have annually marked World Hemophilia Day on April 17 to raise the awareness and understanding of hemophilia and other bleeding disorders. The date was chosen in honour of WFH founder Frank Schnabel, who was born on that day.
What Is Hemophilia?
Haemophilia is a rare and serious congenital bleeding disorder that affects the blood’s ability to clot. As a result, people with haemophilia bleed for a longer time than normal.
Haemophilia is characterised by deficiencies of coagulation factors, and is typically passed down from parent to child, although about a third of cases are caused by a spontaneous mutation. There are two different types of haemophilia, each associated with deficiency of a particular coagulation factor.
Haemophilia A: The most common type is haemophilia A, where the person does not have enough coagulation factor VIII (FVIII).
Haemophilia B: is less common, with people not having enough coagulation factor IX (FIX), representing around 15–20% of total haemophilia cases.
Genetics Behind Hemophilia: A Simple Explanation
The genes for both coagulation factors are on the X chromosome. Females have two X chromosomes, and their second healthy X-linked coagulation factor gene may compensate a mutated one. Therefore, females may be carrier of a mutated coagulation factor gene without knowing it. They pass one of their X chromosomes to their children, by chance in 50% it will be the mutated form. As their daughters will receive their second X chromosme from their father, they are healthy carriers – in case their father is not affected from haemophilia as well. The sons will receive a Y chromosome from their father and by chance either the healthy or the mutated X chromosome from their mother. As a Y chromosome can´t compensated the mutated coagulation factor gene, haemophilia mainly affects males who inherit an affected maternal X chromosome.
How Frequent is Hemophilia ?
It is estimated that about 1 in 10,000 people are affected by haemophilia, with 450,000 people living with haemophilia worldwide. According to a calculation in 2019 by the University of Bagdad, Iran, in selected countries from the Middle East and North Africa (MENA) —Iraq, Iran, Turkey, Egypt, Jordan, Syria, and Saudi Arabia—between 1.4 and 8.1 persons out of 100 000 of the general population are diagnosed from haemophilia. In the United Arab Emirated Hemophilia A occurs in about 1 in 5,000 live births. The prevalence is thought to be higher in the Gulf region due to high rates of consanguineous marriage.
Many people with haemophilia are still undiagnosed or inadequately treated. This results in unnecessary complications and impairment of life quality.
Signs and Complications of Haemophilia
There are three levels of severity in hemophilia, depending on the likelihood of bleeding:
Mild hemophilia causes barely any symptoms on a daily basis. In many cases, it only becomes noticeable in puberty or adulthood, for example, when bleeding after surgery or a deep cut lasts longer than normal.
People with moderate hemophilia may have occasional long-lasting bleeding, but usually only as a result of surgery or an injury. Only rarely is there no apparent cause for the bleeding.
People who have severe hemophilia often have internal bleeding that causes pain. Bleeding for no known reason is typical, especially in the joints of the hand, shoulder, hip, knee, ankle or elbow. Arm and leg muscles are often affected too. Bleeding in the abdomen, throat or brain is especially dangerous.
Symptoms of haemophilia include
- Bruising, especially after minor injuries
- Bleeding into joints, such as the knees, elbows, and ankles
- Bleeding in the mouth, nose, or gums
- Bleeding in the urine or stool
- Heavy menstrual bleeding
- Hemorrhaging after childbirth
Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. This can lead to chronic pain, limited mobility, or even life-threatening events.
- Joint damage: Bleeding into joints can cause pain, swelling, and deformity. If left untreated, it can lead to chronic arthritis.
- Arthritis: Frequent internal bleeding can lead to arthritis.
- Internal bleeding: Bleeding into the brain, throat, or neck can be life-threatening.
- Inhibitors: The body’s immune system may produce antibodies that attack the clotting factors used to treat hemophilia. This makes bleeding episodes more difficult to manage.
- Infection: If the clotting factors used to treat hemophilia come from human blood, there’s an increased risk of viral infections.
Treatment of Hemophilia
The current standard of care for patients with hemophilia comprises regular prophylaxis with intravenously administered recombinant or plasma-derived factor concentrates.2 Adherence to a prophylactic regimen allows patients to maintain adequate factor levels to prevent hemarthrosis and other spontaneous bleeding episodes.2
In recent years, the increased availability of extended half-life (EHL) factor concentrates that require less frequent intravenous dosing has reduced the treatment burden for many patients.3 Emicizumab has recently emerged as a subcutaneous treatment for hemophilia. Other subcutaneous non-factor therapies are undergoing clinical trials.4 Together, these novel treatments are helping many individuals with hemophilia across the world to improve their quality of life (QoL).
Hemophilia treatment involves replacing the missing clotting factor with injections. There are two different approaches.
On-demand treatment
In on-demand treatment, the missing clotting factor is injected only when needed, for example:
- to stop active bleeding and
- before surgery or
- before extracting teeth, in order to limit blood loss.
Preventive treatment
If someone has severe hemophilia, preventive (prophylactic) treatment is usually recommended. The missing clotting factor is then administered on a regular basis. The active substance is injected intravenously every few days to reduce the bleeding tendency. People who have hemophilia can learn to do this themselves if they are shown how to, and with a little practice.
Sometimes other medications are used as well.
To improve the blood’s clotting ability in mild forms of hemophilia, the hormone desmopressin releases clotting factors stored in the blood vessels.
Pain Treatment
Painkillers can be used to treat severe pain. Painkillers that don’t affect blood coagulation, such as ibuprofen, are suitable for this purpose. Acetylsalicylic acid (the drug in medications like Aspirin) is not suitable because it increases the risk of bleeding.
Living With Hemophilia
Hemophilia used to be associated with major limitations. Nowadays, treatment with clotting factors makes it possible for those with hemophilia to do anything that doesn’t put great strain on the joints or involve a high risk of injury.
That even includes sports with a lot of physical contact, mountain biking or skiing, and jobs that involve manual labor. The possibilities will mainly depend on how likely the person is to bleed and how well the treatment can be adjusted.
Physical activities strengthen people’s muscles, make them flexible, help to improve their body awareness and their sense of balance. So regular exercise and sports can prevent injuries that cause bleeding.
Even though treatment is available, living with hemophilia still involves challenges and requires adjustments in everyday life. It takes practice and patience for people to successfully inject the medication themselves. But especially children who have severe hemophilia often learn at an early age to manage their disease and know what to do when they have acute bleeding.
With severe hemophilia in particular, it is helpful to inform loved ones and carers and to carry an emergency ID card at all times.
