Hemophilia Twinning Program: Advancing Care On World Hemophilia Day
Turn on the red light!
Since 1989, patient organizations worldwide have celebrated World Hemophilia Day on April 17 to improve awareness and understanding of hemophilia and other bleeding disorders. April 17 was chosen in honor of World Federation of hemophilia founder Frank Schnabel's birthday. Hemophilia is a rare disease and one in 10,000 people is born with it. On this World hemophilia Day 2024, let's know the key aspects of hemophilia.
What is the history of World Hemophilia Day?
The World Federation of hemophilia (WFH) established World Hemophilia Day on April 17, 1989, to commemorate the birthday of the WFH's founder, Frank Schnabel. Hemophilia was identified in the 10th century when individuals began to notice a disproportionate number of male deaths from seemingly minor injuries. At the time, this illness was known as abulcasis. However, due to technological limitations, this could not be treated. An anticoagulant was routinely used to treat an illness prevalent among royal families at the time; however, the anticoagulant thins the blood and worsens the ailment.
In 1803, Philadelphia's Dr. John Conrad Otto began researching "bleeders," eventually determining that the disease was passed down from mothers to sons. Hemophilia was identified as a type A or B hereditary condition in 1937. However, effective treatment had yet to be established at that time.
The theme of the event this year is "Equitable access for all: recognizing all bleeding disorders."
Objective Of World Hemophilia Day
The goal of World Hemophilia Day is,
- To accomplish the WFH (World Federation of Hemophilia) objective of "Treatment for All," emphasize the need to conduct coordinated and concerted activities.
- Draw attention to the critical concerns and shine a light on hemophilia and bleeding diseases.
What Is hemophilia?
Normally when we have a wound or injury, our blood cells, called platelets, and substances called clotting factors mix to make the blood sticky and form a clot, making the bleeding stop at the wounded site. Hemophilia is a rare inherited disease that affects your blood's ability to clot.
People with hemophilia lack certain clotting factors, resulting in extensive bleeding from a wound or cut. Bleeding can also occur inside the body, particularly in the muscles and joints like knees, elbows, and hips.
There are mainly two types of hemophilia:
- Hemophilia A – It is a common type caused due to lack of clotting factor VIII. It is also known as classic hemophilia.
- Hemophilia B – It is caused due to lack of factor IX and also known as Christmas disease.
What is the causes and risk factors of Hemophilia?
It is usually inherited, meaning the person is born with this disorder. Hemophilia is caused by changes in the clotting factor genes on the x chromosome. Everybody has two sex chromosomes, one from each parent. A girl child inherits the x chromosome from the mother and the x chromosome from the father. The boy child inherits the mother's x chromosome and the father's y chromosome.
If a woman carries the faulty gene (for hemophilia) on her x chromosomes, she can pass it on to her children. If a boy child is born to this mother, there is a half chance he is born with hemophilia. If a girl child inherits the affected gene, she becomes the carrier of the affected gene and can pass it on to her children without having hemophilia herself.
Males are more likely to have hemophilia than females, and the greatest risk factor is a family history of hemophilia. Acquired hemophilia is acquired after birth when the body starts to make antibodies that destroy clotting factors though it is very rare.
What is the symptoms of Hemophilia?
Symptoms of hemophilia depend on how many clotting factors are present in the individual. If the deficiency is less (a person has 5 to 50% of the normal amount of clotting factors), the person may bleed only after trauma or an operation. If the deficiency is high (a person has less than 1% of clotting factor levels), the person can easily bleed for no apparent reason.
The symptoms include,
- Prolonged bleeding from cuts after a dental procedure or after surgery
- Many deep bruises
- Bleeding after vaccinations
- Blood in the stool or urine
- Swelling, pain, or tightness in the joints
- Nosebleeds that are frequent and hard-to-stop
- Unexplained irritability in infants
- Bleeding into the brain (rarely happens)
How Is It Diagnosed & Treated?
Diagnosis: Children with severe hemophilia are usually diagnosed within the 1st year of life. Mild hemophilia may be discovered generally after a dental or surgical procedure or an injury. Clotting factor tests are performed to confirm the diagnosis and reveal how severe the hemophilia is. For people with a family history of this disorder and planning to get pregnant, genetic and genomic testing can help identify the risk of passing hemophilia to a child. There are also certain tests called amniocentesis and chorionic villus sampling (CVS), which can diagnose hemophilia in the baby during pregnancy. But these tests may carry certain risks that your healthcare provider will discuss before testing.
Treatment: The main therapy for hemophilia is replacing the missing clotting factors by injecting them into the veins. The replacement clotting factors can be made from donated human blood or in the laboratory (recombinant forms). In mild and moderate cases, the patients require this treatment usually while having surgery.
In patients with severe hemophilia, replacement therapy can be done on bleeding episodes or as prophylaxis (given once or twice per week to prevent bleeding if the patient has frequent bleeding episodes). Other hemophilia therapies include desmopressin, emicizumab, tranexamic acid, and fibrin sealants.
Hemophilia Twinning Program: Bridging the Gap in Care
The World Federation of Hemophilia has created a short-term program to collaborate with medical professionals, patients, and young leaders from developing countries for two to four years. Everyone from hemophilia treatment centers, patient organizations, and youth groups is encouraged to participate in this program to improve the treatment and care for people affected by hemophilia in developing countries.
The WFH twinning program has established around 265 partnerships over more than 30 years across 119 countries, involving 97 hemophilia organizations, 162 treatment centers, and 5 youth groups. The program has improved diagnosis and treatment plans, increased the knowledge of healthcare professionals caring for patients with bleeding disorders, enhanced outreach initiatives, facilitated resource sharing, increased government support, and strengthened patient organizations.
Closure Point
You are not alone in fighting against hemophilia!
Despite these obstacles, the hemophilia community has demonstrated extraordinary persistence and flexibility. Healthcare providers have devised novel solutions to ensure continuity of care, patients have discovered new methods to stay connected and support one another, and advocacy activities to increase awareness and promote access to treatment have persisted.
Moving forward, we must continue to prioritize the needs of hemophilia patients and move towards long-term, inclusive, and patient-centered care. Investing in research to discover new treatments and therapies, pushing for regulations that promote access to care and resources, raising education and awareness to eliminate stigma and improve understanding of this rare bleeding illness are all part of this effort.
