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What Is Haemophilia? Symptoms, Causes, Types & Treatment
Haemophilia is a rare but serious genetic bleeding disorder. In this in-depth guide, we explain what haemophilia is, why it happens, how to recognise the symptoms early and the treatment options that allow people with haemophilia to live healthy, active lives.
What Is Haemophilia?
Haemophilia is a genetic condition where one or more clotting factors—special proteins in your blood responsible for forming clots—are missing or not working properly. These clotting factors work together like links in a chain. When one important link is weak or absent, the blood cannot clot normally.
This means that when people with haemophilia get even a small cut or injury, the body is unable to stop the bleeding as quickly or efficiently as it should. The blood does not necessarily flow faster, but it bleeds for a longer time than in people without haemophilia. In more severe cases, there is also a risk of spontaneous internal bleeding—bleeding inside joints, muscles or organs without any obvious injury.
While there is currently no permanent cure, modern haemophilia treatment and ongoing medical care have enabled many children and adults with haemophilia to live healthy, active lives, go to school, play sports with precautions and work like anyone else.
Causes of Haemophilia – Why Does It Happen?
The primary causes of haemophilia are genetic. The disorder is usually inherited—passed from parent to child—through a change (mutation) in a gene responsible for making a specific clotting factor.
Haemophilia and the X Chromosome
Haemophilia is typically linked to the X chromosome. Since biological males have one X and one Y chromosome (XY), if they inherit a faulty haemophilia gene on their single X chromosome, it is enough to cause the condition.
- Men (XY): One faulty haemophilia gene on the X chromosome → haemophilia develops.
- Women (XX): Usually need two faulty genes to develop haemophilia, which is rare.
Women are more commonly carriers. They carry one faulty haemophilia gene and one normal gene. Many carriers do not show symptoms, but they can still pass the gene on to their children.
Acquired (Non-Inherited) Haemophilia – Rare but Possible
In rare cases, haemophilia can also occur due to a spontaneous genetic mutation, even if there is no known family history. This is sometimes called acquired haemophilia. It is often diagnosed in adults and may be associated with:
- Autoimmune disorders (where the body’s immune system attacks its own proteins).
- Certain medications or cancers.
- Pregnancy and the postpartum period in some women.
Acquired haemophilia is different from inherited haemophilia and usually needs specialist evaluation, because the immune system may create antibodies that block clotting factors.
Types of Haemophilia
Haemophilia is classified into different types depending on which clotting factor is low or not working correctly. The two most common forms are haemophilia A and haemophilia B.
- Haemophilia A: Caused by a deficiency or problem with clotting factor VIII (8). This is the most common type of haemophilia.
- Haemophilia B: Caused by a deficiency of clotting factor IX (9). It is sometimes called “Christmas disease” after the name of the first described patient.
- Haemophilia C (rare): Involves factor XI (11) deficiency and is generally milder. It affects both men and women and is more commonly reported in certain ethnic groups.
Severity Levels
The severity of haemophilia depends on how much clotting factor is present in the blood:
- Mild: 5–40% of normal clotting factor level. Bleeding usually follows surgery or major injuries.
- Moderate: 1–5% of normal level. Bleeding can follow minor injuries and sometimes occur spontaneously.
- Severe: Less than 1% of normal level. Spontaneous joint and muscle bleeding is common, even without clear injury.
Common Symptoms and Signs of Haemophilia
The symptoms of haemophilia can vary depending on the type and severity, as well as the age at which it is first recognised. Some people are diagnosed in infancy, while others with mild forms may not be diagnosed until they undergo surgery or a dental procedure.
Typical Symptoms
- Bleeding that lasts longer than expected after cuts, vaccinations or dental work.
- Easy bruising, often large or deep bruises from minor bumps.
- Bleeding into joints (knees, ankles, elbows), causing pain, swelling and stiffness.
- Bleeding into muscles, which can cause swelling and tightness.
- Frequent nosebleeds that are hard to stop.
- Blood in urine or stools in more severe cases.
Symptoms in Babies and Young Children
In babies and toddlers, haemophilia may be suspected if parents or doctors notice:
- Excessive bruising when the child begins to crawl or walk.
- Prolonged bleeding after vaccination injections or heel pricks.
- Swollen, painful joints without clear injury.
How Is Haemophilia Diagnosed?
Diagnosing haemophilia involves a combination of medical history, physical examination and specialised blood tests. If there is a known family history of haemophilia, doctors may suspect the condition earlier.
Key Steps in Diagnosis
- Detailed history: Questions about bleeding after injuries, dental work or surgery and any family members with bleeding problems.
- Physical examination: Checking for bruises, joint swelling and signs of anaemia.
- Blood tests: Basic tests like PT (prothrombin time) and aPTT (activated partial thromboplastin time), followed by specific factor level tests for VIII, IX or XI.
- Genetic testing: May be recommended for confirmation, carrier testing or family planning.
Early diagnosis allows timely treatment to prevent joint damage and other complications, especially in children with moderate or severe haemophilia.
Treatment Options for Haemophilia
Although haemophilia is a lifelong condition, modern medicine offers several effective treatment options. With proper care, most people with haemophilia can lead full and active lives.
1. Replacement Therapy (Clotting Factor Concentrates)
The main treatment for haemophilia is replacement therapy. This involves giving the missing clotting factor through a vein (intravenous infusion). The concentrates may be:
- Factor VIII concentrate for haemophilia A.
- Factor IX concentrate for haemophilia B.
Replacement therapy is used in two ways:
- On-demand treatment: Given when bleeding occurs, to stop the bleed.
- Prophylactic treatment: Regular scheduled infusions to prevent bleeds, especially in children with severe haemophilia.
2. Non-Factor Therapies & Newer Medicines
In recent years, newer medicines that work differently from traditional factor replacement have been developed. Some of these:
- Help the blood clot by bridging molecules involved in clot formation.
- Reduce the effect of natural anticoagulants (proteins that slow clotting).
These treatments can sometimes be given as injections under the skin and may require fewer doses, making life easier for children and adults with haemophilia.
3. Desmopressin (DDAVP)
For some people with mild haemophilia A, a medicine called desmopressin can be used. It helps the body release more stored factor VIII into the bloodstream, temporarily increasing the level of clotting factor. It is often used before minor surgeries or dental work.
4. Antifibrinolytic Medicines
Drugs such as tranexamic acid or aminocaproic acid help stabilise clots once they have formed. They are commonly used for:
- Dental procedures.
- Nosebleeds.
- Bleeding in the mouth or after minor surgery.
5. Supportive Care
Treatment of haemophilia is not only about stopping bleeding episodes. It also includes:
- Physiotherapy to keep joints strong and flexible.
- Pain management for joint bleeds.
- Vaccinations (like hepatitis vaccines) to protect from infections.
- Regular follow-up with a haemophilia treatment centre or specialist.
Living with Haemophilia – Practical Tips for Daily Life
With appropriate treatment and lifestyle planning, people with haemophilia can study, work, travel and have families. However, some precautions are essential to reduce the risk of serious bleeds.
Daily Life Tips
- Maintain regular follow-up with a haemophilia treatment centre or specialist doctor.
- Learn how to recognise early signs of joint or muscle bleeding.
- Use protective gear for knees and elbows if advised, especially for children.
- Choose low-impact exercises like swimming and walking to strengthen muscles and protect joints.
- Avoid medicines that increase bleeding risk (like aspirin or some painkillers) unless approved by your doctor.
Family and Emotional Support
A diagnosis of haemophilia can be emotionally overwhelming for both the patient and the family. Counselling, support groups and patient associations can be very helpful. Sharing experiences with other families living with haemophilia often makes the journey easier and less isolating.
FAQs About Haemophilia
1. Is haemophilia contagious?
No. Haemophilia is not contagious. It cannot spread from one person to another through touch, food, air, or normal daily contact. In most cases, it is inherited genetically. In some rare cases, it can develop later in life due to the immune system attacking clotting factors (acquired haemophilia).
2. Can women have haemophilia?
Yes, although it is less common. Most women with a haemophilia gene are carriers and may have no or only mild symptoms. However, some carriers can have lower-than-normal factor levels and experience heavier periods or bleeding issues. In rare cases, women can have haemophilia if both X chromosomes carry the faulty gene or due to acquired haemophilia.
3. Can a person with haemophilia play sports?
Many people with haemophilia can take part in sports and physical activities, especially low-impact ones like swimming, walking, yoga or cycling. High-contact sports such as boxing, football or wrestling are usually not recommended because they carry a higher risk of injury and bleeding. The choice of activity should always be discussed with a doctor or physiotherapist.
4. Is there a permanent cure for haemophilia?
At present, there is no widely available permanent cure for haemophilia. However, treatment has advanced significantly, including factor replacement, non-factor therapies and ongoing research in gene therapy. These approaches help control bleeding and greatly improve quality of life.
5. When should I seek emergency help for a person with haemophilia?
You should seek urgent medical help if a person with haemophilia has a head injury, severe headache, vomiting, confusion, sudden vision or balance problems, severe neck or back pain, difficulty breathing, or very painful, swollen joints or muscles. These can be signs of serious internal bleeding and need immediate medical attention and factor treatment.