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World Hemophilia Day is an annual observance on April 17 to raise awareness around haemophilia, a rare bleeding disorder in which the blood does not clot properly. The disease more common in men occurs due to alterations in genes that regulate our body to stop bleeding. The day is dedicated to support the global bleeding disorders community and advocate access to care, and treatment for all living with such disorders irrespective of age, gender or their location. There is no cure for the bleeding disorder currently and it's important to take measures for its management.
World Hemophilia Day 2024: History
World Hemophilia Day was first observed in 1989. The day was established in order to advocate for improved diagnosis and accessible care for those affected by hemophilia. The World Federation of Hemophilia (WFH) also established the day as an opportunity to raise awareness about the condition. The WFH encourages people to illuminate in red on World Hemophilia Day to show solidarity with those affected by the condition.
The day also aims to urge local policymakers and governments to improve access to care for those with bleeding disorders. The theme emphasizes the need for universal access to diagnosis and treatment services.
World Hemophilia Day is an important day to raise awareness about hemophilia and other bleeding disorders. The day is also dedicated to honoring volunteers who support the hemophilia community. The WFH encourages people to participate in World Hemophilia Day by spreading information about the condition and by supporting local organizations that work to prevent and treat hemophilia.
World Hemophilia Day: Quotes
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Hemophilia is not a punishment; it’s just a challenge. – Janelle Shepherd
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Hemophilia doesn’t define me, but it has made me who I am. – Chris Bombardier
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Hemophilia taught me to be brave, to be strong, and to never give up. – Barry Haarde
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People with hemophilia are the bravest people I know. They face life’s challenges head-on. – Jordan Duckett
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Hemophilia is a challenge, but it is also an opportunity to inspire others and make a positive impact. – Ryan Gielen
World Hemophilia Day 2024: Theme
The theme for this year’s World Haemophilia Day is, ‘Equitable access for all: recognising all bleeding disorders.’ The main idea of this theme is to make sure everyone gets treated, no matter what type of bleeding problem they have, how old they are, where they live or their gender.
Hemophilia Symptoms
The symptoms depend on how severe the deficiency is in an individual. Among them is the appearance of large and unexplained bruises. Bleeding in the gums, nosebleeds, pain and swelling in the joints are also common. Additionally, individuals may experience tightness in the joints, notice blood in their urine and stool. Unusual bleeding, even after vaccinations, can be a symptom of hemophilia.
Hemophilia Causes
In our bodies, blood clotting is a complex process involving different proteins known as coagulation factors. These factors play vital roles in clot formation.
When there’s damage to the skin or in the blood vessels, platelets rush to the injured area to form an initial plug, starting the coagulation cascade. This process helps to clot the blood and stop bleeding.
However, in haemophilia, clotting doesn’t happen naturally due to changes or mutations in genes responsible for producing essential proteins.
As a result, individuals with haemophilia may experience bleeding even from minor injuries or cuts.
World Federation of Hemophilia
haemophilia A/B have treatment in the form of supplementation of factor and gene therapy, however, males affected with hemophilia suffer from various co-morbidities including joint pain, bone-related issues, swelling, internal bleeds apart from excessive bleeding even in minor injury. Undiagnosed in case of mild haemophilia, surgery or an accident can cause death. Thus, diagnosis of the disease is of utmost importance.
Affected individuals are diagnosed through biochemical testing of the factors. Genetic testing can confirm the diagnosis of haemophilia and help in understanding the specific type and severity of the condition. A carrier female will have normal factor levels in most cases. Thus, female family members may choose to undergo carrier testing by genetic studies to determine if they carry a mutation in the F8 or F9 gene, which could be passed on to their children. Biochemical testing is not a suitable method as biochemistry might be normal.
Genetic testing involves analyzing a person's DNA to identify mutations in the F8 or F9 genes from blood or buccal swabs. In cases where there is a family history of haemophilia, invasive diagnostic methods like Chorionic Villi Sampling and amniocentesis followed by specific targeted genetic testing around 11 weeks ( about 3 months ) of pregnancy, can help determine the status of the fetus.
This can help families make informed decisions about the pregnancy and prepare for the care of a child with haemophilia. Alternatively, Preimplantation genetic testing can be performed by taking a biopsy of the embryos formed by IVF on 5 th day and screening for the targeted mutation. This process is called PGT (M), which can help to identify healthy embryos without the trauma of repeated abortions after prenatal diagnosis.
