Haemophilia

Haemophilia disease affects approximately 1 in 10,000 people worldwide, making everyday activities challenging for those who live with this blood clotting disorder. Modern medical advances have created several effective haemophilia treatments that help control bleeding episodes and prevent complications. Understanding the causes of haemophilia disease, identifying haemophilia symptoms, and knowing when to seek medical guidance play a crucial role in successful disease management. This article explores these essential aspects and provides practical guidance for people with haemophilia.

What is Haemophilia?

A rare genetic blood disorder, haemophilia affects the body's ability to form blood clots. This condition occurs when blood lacks sufficient clotting proteins, also known as clotting factors. These proteins work together with platelets to help blood form clots and stop bleeding when blood vessels are damaged.

The following are the main types of haemophilia:

• Haemophilia A: Caused by a deficiency in clotting factor VIII (FVIII), this is the most common haemophilia type
• Haemophilia B: Also known as Christmas Disease, results from a deficiency in clotting factor IX (9)
• Haemophilia C: This very rare haemophilia results from a deficiency in clotting factor XI (11)

Risk Factors and Causes of Haemophilia Disease

The genetic blueprint for haemophilia lies within specific genes that control blood clotting. Mutations in the F8 or F9 genes lead to the production of abnormal or insufficient clotting factors, preventing proper blood clot formation. These genes provide instructions for making proteins called coagulation factors VIII and IX, which are essential for normal blood clotting.

Most people inherit haemophilia through a faulty gene located on the X chromosome. As men are loaded with only one X chromosome, they cannot offset damage to that gene, making them more susceptible to the condition. Women typically serve as carriers, having the defective gene but showing no symptoms, though some may experience mild bleeding symptoms if their clotting factors are moderately decreased.

While most cases are inherited, some individuals develop acquired haemophilia with no family history. This occurs when the body's immune system produces proteins called autoantibodies that attack and disable antihemophilic factors, most preferably clotting factor VIII. 

Several factors can trigger this acquired form:

• Autoimmune disorders
• Pregnancy and postpartum conditions
• Cancer and lymphoproliferative disorders
• Certain medications and drug reactions
• Immune system disorders
• Severe trauma or injury

Symptoms of Haemophilia

The most common signs of haemophilia include:

• Excessive bleeding from cuts or injuries that continues longer than normal
• Unexplained bruising that appears large and deep
• Joint bleeding causing pain, swelling, and reduced mobility
• Muscle bleeding resulting in swelling and discomfort
• Prolonged bleeding after dental procedures or surgery
• Spontaneous nosebleeds that are difficult to stop

The severity of symptoms correlates directly with the amount of clotting factors present in the blood. 

• Mild Haemophilia: Bleeding problems occur only after significant injury or surgery
• Moderate Haemophilia: It may bleed for an unusually long time following minor injuries
• Severe Haemophilia: It may be associated with spontaneous bleeding without apparent cause

Complications

Living with haemophilia brings several potential complications that can significantly impact a person's health and quality of life. These include:

• Joint Complications: Repeated bleeding into joints leads to haemophilic arthropathy, which causes permanent joint damage over time. This condition primarily affects hinge joints and can result in:
  • Chronic pain and swelling
  • Reduced range of motion
  • Decreased muscle strength
  • Difficulty with daily activities
• Brain Haemorrhage Risk: One of the most serious complications of haemophilia is bleeding inside the skull, which requires immediate medical attention. Warning signs include:
  • Severe headache
  • Stiff neck
  • Confusion or mental changes
  • Slurred speech
  • Vision problems
  • Loss of coordination
• Inhibitors: These antibodies can neutralise the effects of clotting factors, making standard treatments less effective. 
• Pseudotumours: These are pools of blood that typically form in muscles near bones.

Diagnosis

Haematologists use various blood tests to diagnose haemophilia:

• Screening Tests: These initial blood tests determine if blood is clotting properly
• Clotting Factor Tests: Also called factor assays, these specialised tests measure the levels and activity of factors VIII and IX
• Genetic Testing: Examines specific genes to confirm the diagnosis and type of haemophilia
• Blood Clotting Screen: A general test available at all hospitals that may suggest the presence of haemophilia

Treatments for Haemophilia

Modern medical science offers several effective treatment options for managing haemophilia disease. 

The main treatment options available include:

• Clotting Factor Replacement Therapy: Provides missing factor VIII or IX through regular injections
• Bispecific Antibodies: Acts as a bridge between clotting factors to improve blood clotting
• Gene Therapy: Introduces working copies of missing clotting factor genes
• Rebalancing Agents: Helps restore balance between anti-clotting and clotting factors

When to See a Doctor

People with haemophilia should seek immediate medical attention if they experience:

• Severe headache with vomiting or blurred vision
• Changes in personality or unusual drowsiness
• Severe abdominal or back pain
• Blood in urine or stool
• Joint stiffness accompanied by pain and swelling
• Difficulty speaking or changes in vision
• Loss of coordination and balance
• If the bleeding does not stop within 10 minutes of applying pressure. 

Parents of children with haemophilia should be particularly vigilant about joint-related symptoms. Early signs of joint bleeding include:

• Babies and children refuse to crawl or walk 
• Tingling or bubbling sensation in the joint
• Limited or painful movement
• Swelling and warmth around the affected area
• Unusual stiffness or discomfort

Prevention

While haemophilia cannot be prevented due to its genetic nature, proper preventive measures can help minimise bleeding episodes and complications. 

• Prophylactic Treatment: People with haemophilia should maintain appropriate clotting factor levels based on their activities. The recommended levels include:
  • More than 5% for normal daily activities
  • Above 15% for sports activities
  • 20-40% before physiotherapy sessions
• Physical Activity Management: Safe participation in physical activities requires careful planning and risk assessment. Low-risk activities that doctors recommend include:
  • Swimming
  • Walking
  • Bicycling
• Avoid Contact Sports: Martial arts, football, and hockey should be avoided due to high bleeding risks.
• Proper Dental Care: Regular dental check-ups and maintaining good oral hygiene help prevent gum disease and excessive bleeding during dental procedures. 
• Genetic Counselling: This helps individuals understand inheritance patterns, make informed reproductive decisions, and prepare for potential challenges. For injury prevention, protective gear appropriate to specific activities should be worn. 
• Care While Taking Medications: Patients should avoid medicines that affect blood clotting, like aspirin and certain anti-inflammatory drugs unless specifically approved by their doctor.

Conclusion

Modern medicine brings hope to people living with haemophilia through advanced treatments and comprehensive care approaches. Factor replacement therapy, gene therapy, and specialised treatment centres give patients more options than ever before. Regular medical supervision, combined with preventive measures and lifestyle adjustments, helps many people with haemophilia lead active, fulfilling lives. Healthcare teams continue working to improve treatments while supporting patients in managing this condition effectively.

FAQs

1. Can people develop haemophilia?

While most cases of haemophilia are inherited, some individuals can develop acquired haemophilia later in life. This rare form occurs when the immune system creates antibodies that attack clotting factors. Certain conditions can trigger acquired haemophilia, including:

• Pregnancy
• Autoimmune disorders
• Cancer
• Certain medications

2. How to stop bleeding with haemophilia?

Managing bleeding episodes requires prompt action and proper haemophilia disease treatment. The primary approach involves replacing missing clotting factors through intravenous infusion. Applying firm pressure and ice packs can help control bleeding while waiting for factor replacement therapy to take effect for minor cuts.

3. Is haemophilia painful?

Haemophilia can cause significant pain, mainly when bleeding occurs in joints or muscles. The pain intensity varies and depends on the location and severity of the bleeding. Regular prophylactic treatment helps prevent painful bleeding episodes and reduces long-term joint damage.

4. Can haemophilia be cured?

Currently, there are no cures for haemophilia. However, modern treatments effectively manage the condition. Gene therapy shows promising results in research trials, potentially offering long-term solutions for some patients in the future.

5. What foods prevent haemophilia?

While no specific foods prevent haemophilia, certain nutrients support overall blood health. Foods rich in iron, vitamin K, and vitamin C can help maintain healthy blood function. These include:

• Leafy greens
• Lean meats
• Citrus fruits
• Whole grains

6. At what age is haemophilia diagnosed?

Most cases of haemophilia are diagnosed early in life. According to medical data, severe cases are typically identified within the first month of life, moderate cases by eight months, and mild cases by 36 months. Some mild cases might not be discovered until later in life, often after surgery or injury.

Dr. Kunal Chhattani

CARE Medical Team