Hemophilia is an inherited bleeding disorder characterized by a deficiency in specific clotting factors, leading to prolonged bleeding.
The two most common types are hemophilia A and hemophilia B.
Hemophilia A
Deficiency: Clotting factor VIII.
Genetics: X-linked recessive inheritance, primarily affecting males.
Hemophilia B
Deficiency: Clotting factor IX.
Genetics: X-linked recessive inheritance, primarily affecting males.
Pathophysiology of Hemophilia
Hemophilia results from mutations in the F8 or F9 gene, leading to reduced or absent clotting factor VIII or IX.
This deficiency impairs the blood clotting cascade, resulting in prolonged bleeding after injuries or spontaneous bleeding episodes.
Symptoms
Prolonged Bleeding: After cuts, injuries, or surgeries.
Spontaneous Bleeding: Into joints (hemarthrosis), muscles, or soft tissues.
Bruising: Easily bruising with minimal trauma.
Joint Damage: Chronic joint damage and pain due to repeated hemarthrosis.
Diagnosis
Coagulation Tests: Prolonged activated partial thromboplastin time (aPTT).
Factor Assays: Measure levels of factor VIII or IX.
Genetic Testing: Identify specific mutations in F8 or F9 genes.
Treatment
Factor Replacement Therapy: Intravenous infusions of recombinant or plasma-derived factor VIII or IX.
Prophylactic Therapy: Regular factor infusions to prevent bleeding episodes.
Desmopressin (DDAVP): For mild hemophilia A, stimulates release of stored factor VIII.
Antifibrinolytic Agents: To prevent clot breakdown (e.g., tranexamic acid).
Gene Therapy: Emerging treatment aiming to introduce functional copies of the defective gene.
Management of Bleeding Episodes
Immediate Factor Replacement: To control bleeding.
RICE (Rest, Ice, Compression, Elevation): For joint and muscle bleeds.
Physical Therapy: To maintain joint function and prevent contractures.
Regular Monitoring: To adjust treatment and prevent complications.