Hemophilia

WHAT IS HEMOPHILIA

Hemophilia is a rare, genetic bleeding disorder characterized by the body’s inability to clot blood properly. This deficiency in clotting factors, which are proteins essential for blood coagulation, results in prolonged bleeding even from minor injuries. Hemophilia primarily affects males, as it is an X-linked recessive disorder, although females can also be carriers.

Types of Hemophilia

Hemophilia A (Factor VIII Deficiency): Hemophilia A is the most common type, accounting for about 80-85% of cases. It occurs due to a deficiency or dysfunction of clotting factor VIII (FVIII).

Hemophilia B (Factor IX Deficiency or Christmas Disease): Hemophilia B is less common, making up about 15-20% of cases. It is caused by a deficiency or dysfunction of clotting factor IX (FIX).

Hemophilia C (Factor XI Deficiency): Hemophilia C is rare compared to hemophilia A and B. It is caused by a deficiency in clotting factor XI (FXI), and it primarily affects Ashkenazi Jews.

Hemophilia A (Factor VIII Deficiency)

Hemophilia A is the most common type of hemophilia, accounting for approximately 80-85% of cases. It is caused by a deficiency or dysfunction of clotting factor VIII (FVIII), which is essential for the formation of blood clots. Individuals with hemophilia A may experience prolonged bleeding episodes, particularly after injuries or surgeries, due to the impaired ability of their blood to clot. The severity of hemophilia A can vary widely, ranging from mild to severe, depending on the level of factor VIII activity in the blood. Severe cases may result in spontaneous bleeding into joints and muscles, leading to long-term complications such as joint damage and chronic pain.

Hemophilia B (Factor IX Deficiency or Christmas Disease)

Hemophilia B is less common than hemophilia A, accounting for approximately 15-20% of cases. It is caused by a deficiency or dysfunction of clotting factor IX (FIX), also known as Christmas factor. Similar to hemophilia A, individuals with hemophilia B experience prolonged bleeding episodes due to the inadequate clotting ability of their blood. The severity of hemophilia B is determined by the level of factor IX activity in the blood. Severe cases may result in spontaneous bleeding and joint complications similar to hemophilia A.

Replacement Therapy.

Clotting Factor Concentrates.

Gene Therapy.

Prophylactic Treatment.

Management of Complications.

Physical Therapy and Rehabilitation.

Hemophilia C (Factor XI Deficiency)

Hemophilia C is rare compared to hemophilia A and B. It is caused by a deficiency in clotting factor XI (FXI). Unlike hemophilia A and B, which primarily affect males, hemophilia C affects both males and females equally, as it follows an autosomal recessive inheritance pattern. Hemophilia C tends to be milder than hemophilia A and B, with bleeding episodes typically occurring less frequently and being less severe. However, individuals with severe factor XI deficiency may still experience significant bleeding, especially after trauma or surgery.

Treatment of Hemophilia: