Haemo

Haemophilia is a rare, genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This condition often leads to prolonged bleeding after injury, surgery, or physical trauma. There are several types of haemophilia, with the most common being Haemophilia A and Haemophilia B, which involve the deficiency of factor VIII and IX, respectively.

Causes and Genetics

Haemophilia is typically caused by an inherited mutation in the genes responsible for clotting factors. It is most commonly inherited in an X-linked recessive pattern, which means the defective gene is located on the X chromosome. Since males have one X and one Y chromosome, they are more likely to have haemophilia if they inherit an affected X chromosome. Females, having two X chromosomes, are usually carriers of the disease and may exhibit mild symptoms if they have one affected X chromosome.

Symptoms

Symptoms of haemophilia vary depending on the severity of the clotting factor deficiency. Common symptoms include:

• Prolonged bleeding from cuts or injuries
• Spontaneous bleeding without apparent cause
• Excessive bleeding following surgery or dental work
• Large or deep bruises
• Pain, swelling, or tightness in the joints due to bleeding
• Blood in urine or stool

Diagnosis

Diagnosis of haemophilia involves blood tests to measure the level of clotting factors. These tests can determine the type of haemophilia and its severity. Genetic testing may also be conducted to identify carriers or to diagnose the condition before birth.

Treatment

While there is no cure for haemophilia, it can be managed with regular injections of the deficient clotting factor, known as replacement therapy. Advances in gene therapy are also being explored as a potential long-term treatment. Preventive measures, such as avoiding certain medications that can exacerbate bleeding, are important for individuals with haemophilia.

Complications

Without proper treatment, haemophilia can lead to serious complications, including:

• Joint damage and arthritis due to repeated bleeding into joints
• Internal bleeding, which can damage organs
• Increased risk of bleeding after surgery or injury

Prevention and Management

Preventive care for haemophilia involves regular treatment with clotting factor concentrates to prevent bleeding episodes and joint damage. Physical therapy and exercise can help maintain joint health. Vaccination against hepatitis A and B is recommended due to the increased risk of exposure to these viruses through blood products.

See Also

• Von Willebrand Disease
• Coagulation
• Genetic Disorders
• Blood Transfusion

External Links

• World Federation of Hemophilia
• CDC Hemophilia Information