Haemophilia is a genetic disorder that affects the blood’s ability to clot. People with haemophilia have a deficiency in one of the blood clotting proteins. This deficiency makes them bleed longer and more easily than someone without haemophilia.

Haemophilia is a rare condition. There are around 400,000 people living with it worldwide. Despite its rarity, it has a long and interesting history.

History of Haemophilia

The earliest documented cases of haemophilia date back to the 2nd century BC. In the Talmud, Jewish scriptures, there is mention of a boy who died from bleeding after circumcision. This was likely a case of haemophilia.

Other ancient texts from Rome and Greece also describe cases of excessive bleeding after injury or surgery, which are now thought to have been haemophilia.

Haemophilia became better understood during the 19th and 20th centuries, particularly after the discovery of blood clotting factors. In 1803, a Scottish doctor named John Hay identified a family that had several sons who bled excessively after injury.

This was the first recorded case of haemophilia in the medical literature.

Haemophilia gained prominence in the late 19th century when Queen Victoria of England was found to be a carrier of the condition. Her son, Prince Leopold, had haemophilia and died from bleeding when he was just 30 years old.

Queen Victoria’s family was known as the “bleeding royal family”. She passed the haemophilia gene on to several of her descendants, including the Russian Tsar Nicholas II.

Types of Haemophilia

There are two main types of haemophilia – haemophilia A and haemophilia B. In haemophilia A, there is a deficiency of clotting factor VIII. In haemophilia B, there is a deficiency of clotting factor IX. Haemophilia A is more common than haemophilia B.

It is estimated that around 80% of people with haemophilia have haemophilia A.

Haemophilia can be mild, moderate or severe, depending on the level of clotting factor in the blood. People with mild haemophilia may bleed more than normal after an injury or surgery, but they may not require treatment.

People with moderate haemophilia may have more bleeding than people with mild haemophilia, and they may require treatment. People with severe haemophilia have very low levels of clotting factor and may experience spontaneous bleeding into their joints and muscles.

Symptoms of Haemophilia

The symptoms of haemophilia can vary depending on the severity of the condition. Common symptoms include:.

• Bruise easily
• Large or deep bruises
• Joint pain and swelling
• Tightness in joints
• Stiffness in limbs or joints
• Bleeding after a cut or injury
• Bleeding for a long time after a cut or injury
• Bleeding into muscles and joints (especially knees, ankles and elbows)
• Bleeding in the head and neck region (which can be dangerous)

Treatment for Haemophilia

There is no cure for haemophilia, but there are several treatments available that can help manage the condition. The main treatment for haemophilia is replacement therapy.

This involves infusing clotting factor concentrates into the blood to replace the missing factors. The clotting factors can be given on a regular basis to prevent bleeding, or they can be given on an as-needed basis to treat bleeding episodes.

Related Article Haemophilia: An Underestimated Prevalence

Other treatments for haemophilia include:.

• Desmopressin – a medication that can increase the levels of some clotting factors in the blood
• Fibrin glue – a type of glue that can be used to stop bleeding from small cuts or wounds
• Antifibrinolytic drugs – medications that can help prevent bleeding by stopping the breakdown of blood clots
• Physical therapy – exercises and stretches to help prevent joint damage from bleeding
• Surgery – in severe cases of joint damage, surgery may be necessary to repair or replace the joint

Prevalence of Haemophilia

Haemophilia is generally thought to be a rare condition. However, recent studies have shown that it may be more prevalent than once believed.

In 2011, a study published in the Journal of Thrombosis and Haemostasis estimated the global prevalence of haemophilia A and B to be 18.8 per 100,000 males. This means that there are around 1 in every 5,000 male births affected by haemophilia.

This is higher than previously thought.

Another study published in the journal Blood in 2014 estimated the prevalence of haemophilia in Iran to be around 1.4 per 10,000. This is similar to the prevalence of haemophilia in other countries.

However, the study found that haemophilia was severely underdiagnosed in Iran. This suggests that the true prevalence of haemophilia may be higher than reported in many countries.

Challenges for People with Haemophilia

Living with haemophilia can present many challenges. People with severe haemophilia may require frequent infusions of clotting factors to prevent bleeding. They may also need to avoid contact sports and other activities that could result in injury.

This can limit their participation in certain activities and make it difficult to lead a normal life.

People with haemophilia are also at increased risk of developing emotional and social problems as a result of their condition. These can include anxiety, depression, social isolation and low self-esteem.

Research into Haemophilia

There is ongoing research into haemophilia and ways to improve treatment and management of the condition. One area of research is gene therapy. This involves replacing the faulty gene that causes haemophilia with a working copy of the gene.

This would provide a permanent cure for haemophilia.

Another area of research is the development of new clotting factor concentrates that last longer in the body. This would reduce the need for frequent infusions and make treatment more convenient for people with haemophilia.

Research is also being done into ways to prevent joint damage from bleeding. This includes the development of new physical therapy programs and the use of imaging techniques to detect joint damage at an early stage.

Conclusion

Haemophilia is a rare genetic disorder that affects the blood’s ability to clot. Although it is a rare condition, recent studies suggest it may be more prevalent than once believed.

Living with haemophilia can present many challenges, but ongoing research is improving treatment and management of the condition. Ultimately, the goal is to find a cure for haemophilia and improve the lives of people affected by this condition.