Haemophilia: Causes, Symptoms & Modern Treatment Options Explained

Haemophilia is a rare genetic condition that affects blood clotting. It happens when important clotting proteins are missing or are at low levels, so bleeding lasts longer than normal. Even minor injuries can take longer to heal, and sometimes bleeding can happen inside the body without warning. 

Today, haemophilia is much easier to manage than it used to be. New medicines and advanced treatments, including gene-based therapies, are helping people control bleeding and live healthier, more active lives.

What Is Haemophilia?

Haemophilia is a rare blood disorder in which the blood does not clot properly. Normally, when we have a cut, blood forms a clot to stop the bleeding. People with haemophilia may have prolonged bleeding or, in severe cases, spontaneous internal bleeding without any injury.

Haemophilia is a genetic disorder that leads to reduced or missing clotting factors in the blood. It is usually present from birth and can range from mild to severe, depending on how much clotting factor is missing. Early diagnosis and treatment are essential to prevent serious complications.

Types of Haemophilia: A, B, and C

There are three main types of haemophilia: 

Haemophilia A

• This is the most common type and is caused by a deficiency of clotting factor VIII.
• It is often called “classic haemophilia”.

Haemophilia B

• It is caused by a deficiency of clotting factor IX.
• It is also known as “Christmas disease”.

Haemophilia C

• This is a rare type caused by a deficiency of clotting factor XI.
• It is usually milder and may only be noticed after surgery or injury.

Causes and Genetic Factors

Haemophilia is caused by a mutation in the genes responsible for blood clotting. These genes are usually on the X chromosome, which is why haemophilia mostly affects males.

Haemophilia Inheritance:

• Males have one X and one Y chromosome. If the X chromosome carries the defective gene, he will have haemophilia.
• Females have two X chromosomes. If one X chromosome carries the defective gene, she is a carrier and may show mild symptoms. Rarely, a female may have haemophilia if both X chromosomes carry the defective gene.

Common Signs and Symptoms of Haemophilia

Haemophilia symptoms depend on the type and severity. Common signs include:

• Prolonged bleeding from minor cuts or injuries
• Frequent nosebleeds
• Easy bruising or large bruises from minor bumps
• Swelling, pain, or stiffness in joints due to internal bleeding
• Blood in urine or stool
• In females, carriers may experience heavy menstrual bleeding.

Severe haemophilia can cause spontaneous bleeding, even without any visible injury, so early recognition and treatment are critical.

Diagnosis and Blood Tests for Haemophilia

Diagnosing haemophilia disease involves blood tests to measure clotting ability. These tests include:

Prothrombin time (PT) and activated partial thromboplastin time (aPTT)

• Measure how long it takes for blood to clot

Clotting factor assays

• Identify the type (A, B, or C) and severity
• Measure levels of factor VIII, IX, or XI

Genetic testing

• Confirms the defective gene
• Helps families understand carrier status

Early diagnosis is key to preventing complications and starting proper haemophilia treatment.

Modern Treatment Options Available

Modern medicine has made haemophilia treatment much more effective, allowing patients to live normal, active lives. The main goal is to replace the missing clotting factor and prevent bleeding episodes.

Treatment Options

Clotting Factor Replacement Therapy

• Factor VIII for Haemophilia A
• Factor IX for Haemophilia B
• Can be given on-demand (during bleeding) or prophylactically (regularly to prevent bleeds)

Desmopressin (DDAVP)

• For mild Haemophilia A
• Stimulates the release of stored factor VIII

Antifibrinolytic Medicines

• Prevent the breakdown of blood clots
• Useful for dental procedures or minor surgeries

Gene Therapy (Emerging Option)

• It shows promise for long-term reduction in bleeding episodes
• It is still being introduced in India under clinical care.

Proper management of haemophilia also includes monitoring joints and preventing long-term complications.

Living with Haemophilia: Care and Precautions

With the right care, people with haemophilia can live active, fulfilling lives. Important steps include:

Preventing injuries

• Avoid contact sports or risky physical activities
• Use protective gear when necessary

Regular medical check-ups

• Monitor clotting factor levels
• Detect early joint damage

Vaccinations

• Protect against hepatitis and other infections, especially if clotting factors are plasma-derived

Healthy lifestyle

• Balanced diet rich in calcium and vitamin D
• Maintain a healthy weight to reduce joint stress

Family awareness

• Educate family members about bleeding emergencies
• Keep emergency numbers and treatment plans accessible

Complications of Haemophilia

Without proper care, complications of haemophilia can include:

• Chronic joint damage from repeated bleeding.
• Internal bleeding in muscles or organs.
• Emotional stress and anxiety caused by fear of bleeding.
• Rare infections from blood transfusions (these are less common today because blood products are safer).

Timely treatment and lifestyle precautions significantly reduce these risks for people with haemophilia.

Final Thoughts

Haemophilia may sound alarming, but with awareness and proper medical care it is highly manageable. Recognising haemophilia symptoms, understanding its causes, and knowing the types can save lives and improve quality of life.

Modern treatment options, including factor replacement and emerging gene therapies, help people live healthy, active lives. Education, regular medical care, and lifestyle adjustments are key to preventing complications and ensuring safety.

By understanding haemophilia, families can reduce fear, seek timely treatment, and help their loved ones live fully despite this lifelong condition.

FAQs

Is haemophilia a genetic disease?

Yes, haemophilia is a genetic disorder caused by a defect in the genes responsible for blood clotting.

How is haemophilia different from other bleeding disorders?

Haemophilia specifically involves a deficiency of clotting factors VIII, IX, or XI, whereas other bleeding disorders may involve platelets or different clotting issues.

Why is haemophilia more common in males?

Haemophilia is usually linked to the X chromosome; males have only one X chromosome, so a defective gene causes the disease, while females have two X chromosomes and are usually carriers.

Is haemophilia a lifelong condition?

Yes, haemophilia is a lifelong condition, but it can be managed effectively with modern treatment.

Can women be carriers or show symptoms of haemophilia?

Yes, women can be carriers and may have mild symptoms like easy bruising or heavy menstrual bleeding; rarely, they may have full haemophilia if both X chromosomes carry the defective gene.

What should I do if a person with haemophilia gets injured?

Apply gentle pressure, keep the injured area elevated, and seek immediate medical care; clotting factor treatment may be needed to stop the bleeding.