What Are the Symptoms of Haemophilia?

Haemophilia is a rare genetic blood clotting disorder in which the blood is unable to clot properly. This leads to bruising, prolonged bleeding, and difficulty stopping bleeding after an injury. Additionally, it can result in spontaneous bleeding, most commonly in the mouth, nose, and digestive tract. An individual is typically born with the condition, however, in rare cases it can also develop later in life. Most sufferers are also male. Understanding haemophilia causes as well as its symptoms is crucial for early detection and effective management.

Table of Contents

• What Is Haemophilia?
• Haemophilia Symptoms in Children
• Signs in Adolescents and Adults
• When to Seek Medical Attention
• Haemophilia Treatment
• More Information

What Is Haemophilia?

Haemophilia occurs when the body lacks the appropriate amount of clotting factors in order to stem a bleed. Usually, when an individual sustains a wound, clotting factors mix with blood cells (platelets) to form a clot. Clotting forms part of the healing process, preventing further bleeding and protecting the wound from infection.

Haemophilia Symptoms in Children

Excessive Bruising 

Children with haemophilia are prone to frequent bruising, even with the most minor bumps or knocks. Pay attention to the frequency and severity, especially if it occurs without an obvious cause.

Prolonged Bleeding

The most recognisable symptom of haemophilia is prolonged bleeding from cuts and injuries. If a child continues to bleed significantly beyond what is typically expected, it may be indicative of a clotting problem.

Joint Pain and Swelling

Haemophilia can sometimes lead to bleeding into joints (haemarthrosis), causing pain and swelling. This is particularly common in weight-bearing joints like the knees and ankles. Parents should be aware of any unexplained joint pain or swelling in their children.

Frequent Nosebleeds

Recurrent nosebleeds that take longer than usual to stop may be an early sign of haemophilia. Take note of the frequency and duration of nosebleeds, especially if they occur without a discernible cause.

Signs in Adolescents and Adults

Easy Bruising and Prolonged Bleeding

Individuals with haemophilia, even in their teenage years and adulthood, may continue to experience easy bruising and prolonged bleeding after injuries or medical procedures. 

Joint Pain and Swelling

Haemarthrosis can become more pronounced as individuals age. This may lead to chronic pain and limited movement in affected joints.

Blood in Urine or Stool

Haemophilia can cause internal bleeding, which can lead to blood in the urine or stools. Sometimes this may not be visible, but any signs of unusual or persistent bleeding should be investigated immediately.

Excessive Menstrual Bleeding in Females

Women with haemophilia may experience abnormally heavy menstrual bleeding or periods. This can be a significant symptom that warrants medical attention for possible bleeding disorders.

When to Seek Medical Attention

Headaches and Stiff Neck

In severe cases, haemophilia can lead to bleeding in the brain, which is a medical emergency. Headaches, vomiting, and a stiff neck may indicate intracranial bleeding and require immediate medical attention.

Difficulty Breathing and Chest Pain

Bleeding into the chest cavity or airways can cause difficulty breathing and chest pain. These symptoms should be treated as urgent, and emergency medical assistance should be sought.

Abdominal Pain and Swelling

Internal bleeding in the abdominal area can lead to severe pain and swelling. If an individual with haemophilia experiences unexplained abdominal pain, urgent medical attention is needed.

If any of the aforementioned symptoms are observed, it is crucial to seek prompt medical assistance. A healthcare professional, often a haematologist, can conduct diagnostic tests to determine clotting factor levels and diagnose haemophilia. Early detection allows for the implementation of appropriate management strategies, including clotting factor replacement therapy.

Haemophilia Treatment

Individuals who have haemophilia are usually referred to haematologists, medical professionals who specialise in and treat blood-related conditions. They are able to identify, diagnose, and provide life-changing treatment to those with these sorts of conditions. Seeing that the condition is the result of the blood not having an adequate amount of clotting factors, haemophilia treatment is typically carried out by injecting clotting factor concentrates intravenously. Treatment will also vary depending on the severity of the condition, usually classified as mild, moderate or severe. This categorisation is determined by the levels of Factor VIII or IX and indicates the expected frequency of bleeding. The aforementioned also allows haematologists to diagnose an individual as having either haemophilia A or haemophilia B, respectively. 

Understanding haemophilia causes and recognising haemophilia symptoms early is pivotal for ensuring timely intervention and optimal management of this genetic disorder. By understanding the signs, both in children and throughout a lifespan, individuals and their families can take proactive steps towards better health outcomes. Increased awareness and education about haemophilia symptoms can contribute to a supportive environment, enabling those with the condition to lead fulfilling and active lives with proper medical care and attention.

For more information, please contact:

Dr JP Naicker
Discipline: Medical Oncologist
Hospital: Zamokuhle Private Hospital
Telephone: +27 11 923 7776