Hemophilia

Hemophilia Introduction

• Hemophilia is an inherited bleeding disorder characterized by a deficiency in specific clotting factors, leading to prolonged bleeding.
• The two most common types are Haemophilia A and Haemophilia B.

Types

1. Hemophilia A

   • Deficiency: Clotting factor VIII.
   • Genetics: X-linked recessive inheritance, primarily affecting males.

2. Hemophilia B

   • Deficiency: Clotting factor IX.
   • Genetics: X-linked recessive inheritance, primarily affecting males.

Pathophysiology of Hemophilia

• The 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

1. Prolonged Bleeding: After cuts, injuries, or surgeries.
2. Spontaneous Bleeding: Into joints (hemarthrosis), muscles, or soft tissues.
3. Bruising: Easily bruising with minimal trauma.
4. Joint Damage: Chronic joint damage and pain due to repeated hemarthrosis.

Diagnosis

1. Coagulation Tests: Prolonged activated partial thromboplastin time (aPTT).
2. Factor Assays: Measure levels of factor VIII or IX.
3. Genetic Testing: Identify specific mutations in F8 or F9 genes.

Treatment

1. Factor Replacement Therapy: Intravenous infusions of recombinant or plasma-derived factor VIII or IX.
2. Prophylactic Therapy: Regular factor infusions to prevent bleeding episodes.
3. Desmopressin (DDAVP): For mild haemophilia A, stimulates release of stored factor VIII.
4. Antifibrinolytic Agents: To prevent clot breakdown (e.g., tranexamic acid).
5. Gene Therapy: Emerging treatment aiming to introduce functional copies of the defective gene.

Management of Bleeding Episodes

1. Immediate Factor Replacement: To control bleeding.
2. RICE (Rest, Ice, Compression, Elevation): For joint and muscle bleeds.
3. Physical Therapy: To maintain joint function and prevent contractures.
4. Regular Monitoring: To adjust treatment and prevent complications.

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