World Hemophilia Day

 

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.

History of World Hemophilia Day

The foundation of the day was laid in 1989 by the World Federation of Hemophilia (WFH). April 17 was decided as the date to observe the health day every year to honour the founder of the organisation Frank Schnabel, who played a significant role in advocating for hemophilia awareness and treatment and dedicated his life towards improving lives of those suffering from the disorder.

While hemophilia cases have been found in ancient Egypt, the disease came to known as a 'royal disease' when Queen Victoria from England in the 19th century became a carrier of hemophilia B, or factor IX deficiency and passed on the trait to three of her nine kids.

The word haemophilia is a shortened version of the term haemorrhaphilia which was coined by Dr. Schonlein, a professor at the University of Zurich, and his student, Friedrich Hopff.

Significance of World Hemophilia Day

A rare genetic disease that affects the ability of blood to clot can greatly impact people suffering from it and cause bone related issues, joint pain, swelling and internal bleeding. Undiagnosed cases can even turn fatal.

The day provides an opportunity to educate people about the causes, symptoms, diagnosis, and management of hemophilia, as well as the challenges faced by those living with the condition. World Hemophilia Day fosters a sense of community and solidarity among individuals affected by hemophilia, their families, caregivers, healthcare providers, and advocacy organizations, reinforcing the importance of support networks and mutual understanding. It also highlights the need for ongoing research, innovation, and advancements in the field of hemophilia treatment and management.

Types of hemophilia

Haemophila A and B are most common. It is caused by alterations or mutations in F8 or F9 gene respectively on X- chromosomes. The genes associated with haemophilia A and B, F8 and F9, respectively, provide instructions for producing clotting factors VIII and IX. Mutations in these genes result in reduced or non-functional clotting factors, leading to bleeding disorders. The severity of haemophilia in affected individuals can vary, depending on the specific mutation and the level of clotting factor present in their blood. Haemophilia C, caused by deficiency in factor XI located on an autosome, however is rare.

Haemophilia A/B is an X-linked recessive genetic disorder. This means that the affected gene responsible for haemophilia is located on the X chromosome. Since males have one X and one Y chromosome (XY), and females have two X chromosomes (XX), haemophilia primarily affects males. Females can be carriers of the haemophilia gene if they inherit one normal X chromosome and one with a mutation, but they usually do not show symptoms themselves.