Haemophilia is a rare genetic disorder that affects the blood’s ability to clot. It occurs when the blood lacks enough clotting factor proteins, which are essential for the formation of blood clots.

As a result, people with haemophilia are more likely to bleed for a longer time than those without the disorder, and they may also experience bleeding into joints, muscles, and internal organs. Haemophilia is an incurable condition, but it can be managed with proper treatment and care.

Types of haemophilia

There are two main types of haemophilia:.

Haemophilia A

Haemophilia A is the most common type of haemophilia, affecting around 1 in every 5,000 males worldwide. It occurs when there is a deficiency or absence of clotting factor VIII (FVIII).

This deficiency or absence can be mild, moderate, or severe, depending on the amount of FVIII in the blood. People with severe haemophilia A have less than 1% of the normal amount of FVIII and are more likely to experience spontaneous bleeding, while those with mild or moderate haemophilia A usually bleed only after injury or surgery.

Haemophilia B

Haemophilia B, also known as Christmas disease, is a rare form of haemophilia that affects around 1 in every 20,000 males worldwide. It occurs when there is a deficiency or absence of clotting factor IX (FIX).

Like haemophilia A, haemophilia B can be mild, moderate, or severe, depending on the amount of FIX in the blood. People with severe haemophilia B have less than 1% of the normal amount of FIX and are more likely to experience spontaneous bleeding, while those with mild or moderate haemophilia B usually bleed only after injury or surgery.

Causes of haemophilia

Haemophilia is caused by mutations in the genes that control the production of clotting factor proteins. These mutations can be inherited from one or both parents or can occur spontaneously in the affected person.

Inherited haemophilia – Inherited haemophilia occurs when a person inherits the faulty gene for haemophilia from one of their parents.

If a woman carries the faulty gene, there is a 50% chance that each of her sons will have haemophilia. If a man with haemophilia has a child with a woman who does not carry the faulty gene, their daughters will be carriers, but their sons will not have haemophilia.

Spontaneous haemophilia – Spontaneous haemophilia occurs when a person develops a mutation in the genes that control the production of clotting factor proteins, without inheriting the mutation from their parents.

This type of haemophilia can occur in people with no family history of the disorder.

Symptoms of haemophilia

The symptoms of haemophilia vary depending on the severity of the disorder. People with mild haemophilia may have no symptoms at all, or they may only experience bleeding after injury or surgery.

People with moderate haemophilia may experience bleeding after minor injuries or have unusual bleeding after surgery. People with severe haemophilia may experience frequent spontaneous bleeding into joints, muscles, and internal organs. The symptoms of haemophilia can include:.

Bleeding into joints, causing pain, swelling, and stiffness
Bleeding into muscles, causing swelling and pain
Bleeding into internal organs, such as the stomach, intestines, or urinary tract
Bleeding after injury or surgery
Easy bruising
Nosebleeds that are hard to stop
Blood in the urine or stool
Excessive bleeding from small wounds

Diagnosis of haemophilia

Haemophilia is usually diagnosed in childhood, often after a child experiences unexplained bleeding or bruising. The diagnosis of haemophilia involves a physical examination, blood tests, and genetic testing.

The physical examination may reveal signs of bleeding, such as joint swelling or bruising. Blood tests can confirm the diagnosis by measuring the level of clotting factor proteins in the blood.

Genetic testing can also be done to identify the specific type of haemophilia and to determine whether other family members are carriers of the disorder.

Treatment of haemophilia

There is no cure for haemophilia, but the disorder can be managed with proper treatment and care. The goal of treatment is to prevent bleeding, control bleeding when it occurs, and reduce the risk of injury and disability.

The treatment of haemophilia may involve:.

Replacement therapy

Replacement therapy involves replacing the missing clotting factor proteins with a synthetic form of the protein. The clotting factor proteins are infused into a vein, usually through a small tube called a catheter.

Replacement therapy can be done on an as-needed basis, such as after an injury or surgery, or it can be done on a regular schedule as a prophylaxis to prevent bleeding.

Desmopressin

Desmopressin is a medication that stimulates the release of clotting factor VIII from the body’s stores. It can be used to treat mild haemophilia A and to prevent bleeding before minor dental procedures or surgery.

Blood transfusions

In some cases, a person with haemophilia may need a blood transfusion to replace lost blood and clotting factor proteins.

Educational and emotional support

People with haemophilia and their families may benefit from educational and emotional support to help them cope with the challenges of living with a chronic condition.

Conclusion

Haemophilia is a rare genetic disorder that affects the blood’s ability to clot. It can cause bleeding into joints, muscles, and internal organs, and it can lead to chronic pain, disability, and other complications.

Although there is no cure for haemophilia, the disorder can be managed with proper treatment and care. People with haemophilia and their families can benefit from education and emotional support to help them cope with the challenges of living with a chronic condition.