Haemophilia - A disease that people need to be more aware of!

Nature is magnificent and amazing!

It has birthed this human body - the most complex machine that exists on this planet and the workings of which we are still understanding.?

A slight change in the DNA leads to complex diseases like Haemophilia.

What is Haemophilia?

Haemophilia is a genetic disease usually passed from parents to children and is more common in males. It is caused by a deficiency in clotting factors carried by chromosomes, impairing the blood's ability to clot, and resulting in bleeding.

Individuals with haemophilia lack a specific clotting protein in their blood, which helps stop bleeding at an injury site by working with platelets. As a result, people with haemophilia often bleed longer after an injury and are more vulnerable to internal bleeding. In severe cases, excessive bleeding can be fatal.

History of Haemophilia

Every year on April 17th, World Hemophilia Day is observed to honour Frank Schnabel, the founder of the World Federation of Hemophilia.?

This significant event serves as an opportunity to raise awareness and educate the public about haemophilia and other bleeding disorders.

Fact: Haemophilia is usually inherited and about one in every 5,000 males suffer from this disease.

Causes of Haemophilia

When a person bleeds from a wound, their body forms a clot to stop the bleeding. Clotting is enabled by blood proteins and platelets working together. However, in cases where clotting factors are deficient, it can lead to the development of haemophilia. Haemophilia can be present from birth (congenital) or can develop later in life (acquired).

Symptoms

Hemophilia is typically characterized by abnormal or excessive bleeding and bruising, although the symptoms can vary among individuals with the condition, according to the National Organization for Rare Disorders (NORD). Signs of haemophilia may include:

• Bleeding from the mouth and gums
• Frequent nosebleeds
• Bleeding into the joints
• Bleeding after circumcision
• Bloody stool
• Blood in urine
• Bleeding after vaccinations or other injections.

Types of Haemophilia

Haemophilia is categorized into three types: Haemophilia A, B, and C, with Haemophilia A being the most common.

• Treatment for Haemophilia A typically involves prescribing the hormone desmopressin.
• Haemophilia B is usually managed by infusing clotting factors from a donor's blood into the patient.
• Haemophilia C is often treated with plasma infusion to control excessive bleeding.

Indian Context

Hemophilia has been diagnosed in over 1,36,000 individuals, occurring in approximately 1 in 10,000 male births. Out of these cases, 19,690 are registered as Hemophilia A (Hem-A) patients. With a low diagnosis rate of only 13%, it is essential to raise awareness about this condition.

Around?80 percent?of the cases are misdiagnosed or not diagnosed at all in India according to doctors. There's also a stigma of a doctor losing a patient to this disease hence they refuse to treat people suffering from this disease.

What's the solution? It's simple

1. Making the clotting factor injections more readily available and affordable. Right now they are priced at ?10,000 per injection. Many bleeds require three of these injections - the cost is out of bounds for a normal Indian without it pushing them to the brink of poverty.
2. Increase awareness about it. Misogyny and lack of awareness plays a vital role in the diagnosis. The place where a woman is blamed for diseases - even though this is inherited from the man, it's important to make people aware.?

Furthermore, government hospitals must provide clotting injections to those experiencing bleeding episodes as a mandatory practice. Promptly addressing bleeding is crucial to prevent long-term complications such as increased hospitalization and reduced mobility.

Investing in improved access to haemophilia treatment is not only financially wise, but it also fulfils the basic moral expectation that everyone's pain should be relieved by medical institutions.