Introduction

Haemophilia, a rare but serious bleeding disorder, is a condition that impacts the body’s ability to form blood clots, resulting in excessive bleeding even from minor injuries. Observed mainly in males, this condition can lead to significant medical complications without proper management. On April 17, 2025 World Haemophilia Day, it is crucial to raise awareness about the disorder, its types, symptoms, causes, and the treatments available. The Renal Care Foundation (RCF) plays a pivotal role in providing free treatment for those living with haemophilia, offering both medical care and the necessary emotional support for individuals and families dealing with this condition.

What Is Haemophilia?

Haemophilia is a genetic disorder where the blood does not clot properly, leading to uncontrolled bleeding. This occurs because of a deficiency in one of the clotting factors, which are proteins in the blood necessary for blood to clot. As a result, even a small wound can cause prolonged bleeding, and in severe cases, spontaneous internal bleeding can occur, particularly in joints and muscles.

What Is Haemophilia Disease?

Haemophilia is often referred to as a disease that affects the blood clotting process. The disease occurs due to mutations in the genes responsible for producing clotting factors, which help the blood to clot. These clotting factors include factor VIII (for Haemophilia A) and factor IX (for Haemophilia B). Without these factors, the blood cannot clot as it should, leading to prolonged bleeding and possible internal bleeding.

Haemophilia Definition

The definition of haemophilia centers on its characteristic feature – difficulty in blood clotting due to the lack of sufficient clotting factors in the blood. The severity of the condition can vary, with some individuals experiencing minor bleeding episodes while others may have frequent, severe bleeding that requires ongoing medical intervention.

Types of Haemophilia

Haemophilia has three primary types, which differ in the clotting factor that is deficient or absent in the blood. Each type affects the body in varying degrees of severity:

1. Haemophilia A: This is the most common form, accounting for about 80% of all haemophilia cases. It occurs when there is a deficiency of clotting factor VIII. Individuals with Haemophilia A may experience severe bleeding after an injury or surgery, or even spontaneous bleeding, especially in joints and muscles.
2. Haemophilia B: Also known as Christmas disease, Haemophilia B is caused by a deficiency of clotting factor IX. Although less common than Haemophilia A, Haemophilia B also results in bleeding episodes that require treatment.
3. Haemophilia C: This is a rarer form of haemophilia, resulting from a deficiency in clotting factor XI. It is typically less severe than Haemophilia A or B and can affect both males and females.

Haemophilia A vs B

While both Haemophilia A and B result in bleeding disorders due to missing clotting factors, they differ in the specific factor that is deficient. Haemophilia A is caused by a lack of factor VIII, while Haemophilia B results from a deficiency of factor IX. The severity of bleeding symptoms and the treatment approach can differ based on the type of haemophilia. Understanding whether someone has Haemophilia A or B is important for accurate diagnosis and treatment.

Haemophilia Symptoms

The symptoms of haemophilia are primarily related to bleeding, either from an injury or internally. The severity of symptoms varies depending on the type and level of clotting factor deficiency:

1. Excessive bleeding from cuts, injuries, or after surgery
2. Frequent nosebleeds
3. Bruising easily
4. Swelling and pain in joints (often from internal bleeding)
5. Blood in urine or stool
6. Spontaneous bleeding (without obvious cause)
7. Internal bleeding, particularly in muscles and joints, which can lead to long-term damage if untreated

For individuals with severe haemophilia, even minor injuries can lead to significant bleeding and complications, making ongoing treatment and monitoring essential.

Haemophilia Causes

Haemophilia is primarily inherited, meaning it is passed down through families. The condition is linked to the X chromosome, which is why it is more commonly seen in males. Females can be carriers of the disease and pass it on to their children but typically do not display symptoms themselves. Mutations in the genes responsible for producing clotting factors VIII (in Haemophilia A) and IX (in Haemophilia B) are the root causes of haemophilia.

In rare cases, haemophilia can develop later in life due to the formation of inhibitors, which are antibodies that attack the clotting factor proteins administered during treatment.

Factor 8 and Factor 11 in Haemophilia

Factor VIII (Factor 8) is crucial in the clotting process and is particularly significant in Haemophilia A. A deficiency in this factor leads to improper blood clotting, which is the hallmark of the disease. Factor IX deficiency leads to Haemophilia B, which also causes abnormal bleeding. Another important factor, Factor XI, is related to Haemophilia C, a rarer variant that results in clotting issues due to a deficiency of this factor.

Haemophilia Treatment

Treatment for haemophilia primarily focuses on replacing the missing clotting factors to allow blood to clot normally. This can be achieved through several medical interventions:

1. Clotting factor replacement therapy: The mainstay of treatment involves infusions of clotting factor VIII or IX. These can be administered on a regular basis (prophylactic treatment) or as needed (on-demand treatment) to manage bleeding episodes.
2. Gene therapy: This emerging treatment aims to provide long-term relief by introducing a working copy of the defective gene, potentially reducing the need for regular factor infusions.
3. Desmopressin: For individuals with mild Haemophilia A, desmopressin (a synthetic hormone) can help to stimulate the release of stored factor VIII, improving clotting ability.
4. Antifibrinolytic drugs: These drugs help to prevent the breakdown of clots, reducing bleeding episodes.

Haemophilia Free Treatment at Renal Care Foundation

The Renal Care Foundation (RCF) provides comprehensive care for individuals living with haemophilia, ensuring access to life-saving treatment at no cost. Through clotting factor replacement therapy, regular monitoring, and a support system for patients, RCF aims to reduce the impact of haemophilia on daily life and improve long-term health outcomes. RCF’s free treatment services help to alleviate the financial burden on families, ensuring that individuals with haemophilia receive the care they need to manage their condition effectively.

Treatments for Haemophilia: What You Should Know

For those living with haemophilia, adhering to treatment regimens is essential for managing symptoms and reducing the risk of complications. Regular infusions of clotting factors, whether at home or in a medical facility, play a key role in preventing spontaneous bleeding and managing bleeding episodes. RCF offers free access to these therapies, which can significantly improve the quality of life for individuals with haemophilia.