Hemophilia is a disease that causes a person to bleed a lot, even from very small injuries because the blood does not clot. It is usually an inherited bleeding disorder in which blood does not clot properly. This can lead to spontaneous bleeding (bleeding that occurs for no known reason) as well as bleeding following injuries or surgery.

The majority of cases of hemophilia - a rare genetic illness that causes problems with blood clotting - remain misdiagnosed and unreported despite the availability of methodologies for diagnosis and management. Doctors say it happens due to a lack of knowledge regarding genetic counselling and testing.

World Haemophilia Day was first celebrated on the 17th of April 1989, by the World Federation of Hemophilia (WFH) to honor Frank Schnabel's birthday-the WFH's founder. World Hemophilia Day is a global healthcare event celebrated on the 17th of April every year, started by the World Federation of Hemophilia (WHF).

Intention here remains to raise a call for the government authorities and local policymakers for the provision of a better treatment and care in addition to promote better control and prevention with hemophilia. A rare severe, inherited hemorrhagic disorder- Hemophilia is caused by malfunction of factor VIII and factor IX protein (factors required for blood clotting/ coagulation), leading to an abnormality in blood coagulation.

Although people of all races and ethnicities can be diagnosed with hemophilia, men are more likely to be affected because the ailment is connected to the X chromosome.

There is a 50% probability that a boy whose mother carries the hemophilia gene will also be affected by hemophilia, and her daughter being 50% risk of being carrier. Hence, hemophilia is more common in males, despite the fact that it can affect females, causing difficulties with menstruation and childbirth.

This year, 2025, World Hemophilia Day Theme is "Access for All: Women and Girls Bleed Too". This theme highlights the need for better diagnosis and treatment for girls and women with bleeding disorders, who often remain underdiagnosed and underserved. The focus is to ensure equitable access to care for this population.

Year-by-year themes observed for World Hemophilia Day are:

• World Hemophilia Day 2024 theme: Equitable access for all: recognizing all bleeding disorders
• World Hemophilia Day 2023 theme: Access for All: Prevention of bleeds as the global standard of care
• World Hemophilia Day 2022 theme: Access for All: Partnership. Policy. Progress
• World Hemophilia Day 2021 theme: Adapting to change: sustaining care in a new world
• World Hemophilia Day 2020 theme: Get involved to carry the motive of the World Federation of Hemophilia - Treatment for all
• World Hemophilia Day 2019 theme: Outreach and Identification
• World Hemophilia Day 2018 theme: Sharing knowledge makes us stronger

In 2000, it was estimated that 4 lakh persons, or around 1 in 10,000 live births, were affected by this disorder worldwide, and only 25% of those affected had access to adequate treatment. In 2019, however, a meta-analysis showed that the number of men with the inherited bleeding condition is far higher, at 11.25 lakh.

Even in high-income nations, only about 15% of the global population, has access to effective treatment for hemophilia. The lack of resources for diagnosis and treatment leads to high mortality and morbidity rates in low- and middle-income countries.

This year, World Hemophilia Day celebrates its 31st anniversary with activities focused on encouraging the public to support government and policymakers for the provision of better treatment, prevention, and control of bleeds in persons suffering from bleeding disorders.

Hemophilia wasn't discovered until the 10th century, when people started paying attention to the disproportionate number of male deaths from seemingly small accidents.

This condition was referred to as “abulcasis” at the time. However, this could not be treated owing to technological constraints. An anticoagulant was commonly used to treat a disease that was rampant among royal families at the time; however, the anticoagulant thins the blood and worsens the condition.

In 1803, Dr John Conrad Otto of Philadelphia began researching "bleeders," who eventually concluded that the disease was passed down from mothers to sons. In 1937, hemophilia was classified as a type A or B genetic disorder. However, effective treatment had yet to be developed up to that point.

Despite the improvement and availability of medical technology, hemophilia is grossly underdiagnosed and detected in India. The condition, a bleeding disorder that prevents blood from clotting, happens due to the inability of body to produce the anti-hemophilic factor, or AHF, in the required quantity.

According to experts, there are over 2 million cases - estimated to be the second highest number of patients with hemophilia in India, which is a lifelong bleeding disorder that prevents blood from clotting.

The condition is underreported due to a combination of limited awareness, poor access to diagnostic tools, and stigma surrounding bleeding disorders. “Although the genetic basis of hemophilia is well established, it is estimated that only 15–20 per cent of cases in India are officially diagnosed. This equates to thousands of people, particularly rural and underserved populations, existing without knowing they have a condition that can be managed.

Dr. Thenral S Geetha, Principal Scientist, MedGenome, holds so. The patients, who approach doctors with complaints like unexplained bruising, joint swelling, or bleeding that will not stop—are often misinterpreted or not addressed, particularly in the absence of a known family history.

Doctor has called for genetic testing, which can help not only manage the condition but also prevent and predict future risks of the disease. “Most importantly, genetic testing is even useful in de novo mutation situations, directing us with clarity and purpose. By integrating genetic testing and counselling into routine public health clinics, particularly for families with a history of a bleeding disorder, Doctors can reduce delays in diagnosis, prevent complications, and help make informed choices”.

There is no known cure for this disorder. Hemophilia is caused by the failure of the body to produce the factor required for coagulation. Its symptoms include:

• Spontaneous bleeding into the joints
• Bruising
• Bleeding into the skin
• Bleeding into the muscle and soft tissue
• Blood in stool or urine
• Bleeding after a shot
• Nosebleeds
• Bleeding in the gums or mouth

Doctors say if it is not diagnosed early, the constant bleeding into joints, bones, and muscles can lead to painful arthritis and permanent joint deformities. It can even result in death.

In Hemophilia A, improper or delayed management often leads to repeated joint bleeds, which over time cause chronic joint damage and mobility issues. It is said by Dr. Rasmi Palassery, Consultant, Pediatric Oncologist, Hematologist and Bone Marrow Transplant Physician.

Those with severe hemophilia can also develop life-threatening bleeding in their brains. Brain bleeds may lead to persistent headaches and double vision or make you feel very sleepy.

A doctor will make the diagnosis by doing a complete history and physical examination. If one has hemophilia symptoms, Doctor will ask about family’s medical history along with the tests:

Complete blood count: Doctors use this test to measure and study blood cells.

Prothrombin time test: This test is done to see how quickly your blood clots.

Partial thromboplastin time test: It helps find out about blood clot formation.

Specific clotting factor test: This blood test shows levels of specific clotting factor levels