Haemophilia is a rare genetic bleeding disorder that causes excessive bleeding due to missing clotting factors. Noor Thalassemia Foundation offers free treatment and emotional support for patients on World Haemophilia Day 2025.

Introduction Haemophilia, an uncommon yet serious bleeding disorder, affects a body's ability to form blood clots properly and causes excessive bleeding even from minor injuries, most frequently in males. Without appropriate management, this condition can result in significant medical complications without effective care being administered; on April 17, 2025 International Haemophilia Day, it is vitally important that awareness about this rare but serious bleeding condition, its causes and treatments be spread as much as possible - something the Noor Thalassemia Foundation plays an instrumental role in providing free of cost treatment services alongside emotional care as they assist those living with haemophilia both physically as emotionally!

What Is Haemophilia?

Haemophilia is an inherited disorder in which blood clotting does not take place properly, leading to uncontrollable bleeding. This happens due to deficiencies in one or more clotting factors - proteins found within our blood that help it form clots - leading even minor wounds to cause prolonged or spontaneous internal bleeds, particularly joints and muscles.

Haemophilia Disease

Haemophilia, often called blood-clotting disorder, occurs due to gene mutations responsible for producing the essential factors needed for blood clotting - factor VIII for Haemophilia A and factor IX for Haemophilia B patients, respectively). Without these vital clotting factors, the blood cannot clot as intended, leading to prolonged and even internal haemorrhaging.

Haemophilia Definition

Haemophilia can be defined by its hallmark feature - difficulty with blood clotting due to inadequate levels of clotting factors in the body. While symptoms vary widely from individual to individual, minor bleeding episodes to frequent, severe haemorrhaging episodes requiring medical intervention could all fall under its purview.

Types of Haemophilia

Haemophilia has three primary sub-categories that differ by which blood clotting factor(s) its deficiency/absence affects. Each subtype affects the body in varying degrees:

What is the difference between haemophilia A, B and C?

Haemophilia A: This form accounts for around 80% of haemophilia cases. It results from deficient levels of Clotting Factor VIII; individuals suffering from Haemophilia A may experience significant and unexpected bleeding as a result of injury, surgery, or even spontaneous internal haemorrhaging, especially in joints or muscles.

Haemophilia B: Commonly referred to as Christmas disease, Haemophilia B is caused by a deficiency of Clotting Factor IX (clotting factor IX is necessary for proper blood clotting). This results in bleeding episodes that require treatment. Although less common than Haemophilia A, Haemophilia B requires ongoing management for optimal results.

Haemophilia C: This form of haemophilia, caused by deficiency of Clotting Factor XI, tends to be milder than Haemophilia A and B and affects both males and females equally.

Haemophilia A and B While both types of haemophilia lead to bleeding disorders due to missing clotting factors, Haemophilia A differs in which factor is missing: A is caused by lacking factor VIII while in B, it is factor IX that's missing; treatment options depend on which form one has. Understanding whether someone has Haemophilia A or B can aid accurate diagnosis and management strategies.

Haemophilia Symptoms

Haemophilia symptoms typically involve bleeding due to injury or internal haemorrhaging; their intensity depends on which clotting factor(s) have deficient levels or types. The severity may also differ depending on clotting factor deficiency levels:

Excessive bleeding due to cuts, injuries or surgery

Frequent Nosebleeds

Bruises Easily Swelling and Pain in Joints (Often Due To Internal Bleeding)

Internal bleeding in muscles and joints may result in long-term damage if left untreated, including internal bruising that requires medical intervention to control.

Individuals living with severe haemophilia need ongoing monitoring and treatment because even minor injuries may cause severe bleeding, making ongoing treatment essential.

Haemophilia Causes

Haemophilia is usually genetic and passed down from parent to child over generations, with males more often experiencing its effects due to being linked with the X chromosome than females (though female carriers of this disease can pass it onto future generations without showing symptoms themselves). Mutations affecting genes responsible for producing the clotting factors VIII (in Haemophilia A) or IX (in Haemophilia B). are root causes of haemophilia's mutational effects; genetic mutations responsible for producing these factors are usually responsible.

Rarely, haemophilia may develop later in life due to inhibitors forming, such as antibodies that attack clotting factor proteins given for treatment.

Factor 8 and Factor 11 in Haemophilia

Haemophilia A is defined by insufficient blood clotting due to deficient Factor VIII levels; any deficiency can result in improper clotting—one hallmark of the condition—while Factor IX deficiency leads to Haemophilia B, which results in abnormal bleeding. Furthermore, XI factors are essential when treating Haemophilia C, a rarer variant that presents with similar issues due to deficient levels.

Haemophilia Treatment

Haemophilia treatments focus on replacing missing clotting factors to restore standard clotting patterns to allow blood to clot normally; this may involve various medical approaches:

Clotting factor replacement therapy: As the cornerstone of treatment, infusions of Clotting Factor VIII or IX may be administered routinely or as needed to manage bleeding episodes. Such infusions may provide prophylactic benefits (prophylactic treatment), or on-demand treatments can assist during bleeding episodes (on-demand treatment).

Gene Therapy: As an emerging therapy option, gene therapy offers long-term relief by replacing defective genes with functioning copies, potentially eliminating or significantly decreasing regular factor infusion needs.

Desmopressin (a synthetic hormone): For individuals living with mild Haemophilia A, desmopressin can help stimulate the release of stored factor VIII for improved clotting capabilities.

Antifibrinolytic Drugs: Antifibrinolytic medications help prevent blood clots from dissolving, thus decreasing bleeding episodes and episodes of subclinical bleeding.

Haemophilia Free Treatment at Noor Thalassemia Foundation

Noor Thalassemia Foundation (Noortf) offers comprehensive care to individuals with haemophilia at no cost. It guarantees access to lifesaving clotting factor replacement therapy and monitoring, regular patient support services, and an access support network to minimize its effect on daily life and promote long-term health outcomes. Their free treatment services help alleviate financial strain on families while giving individuals with haemophilia all of the support services necessary for effective management.

Treatments for Haemophilia:

Those living with haemophilia must adhere to treatment regimes to manage symptoms and lower risks associated with complications. Clotting factor therapy injected either at home or in medical facilities plays a key role in both preventing spontaneous bleeding episodes and managing them more effectively. Noortf provides free access to these therapies, significantly improving the quality of life among individuals living with haemophilia.