HAEMOPHILIA


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Introduction

  • Hemophilia “the royal disease”  is an X linked genetic disorder of coagulation, affecting males. It result from reduction in factor VIII antihemophilic factor.

Classification:

  • Severe= less than 1%of normal activity.
  • Moderate= 1-5% of normal activity.
  • Mild= more than 5% of normal activity.

Clinical features

  1. It is characterize by excessive bleeding, unusual the baby is 6 months old.
  2. Hemarthrosis- bleeding into joint. In acute stage, affected joint is swollen, hot, tender and movement severely restricted.
  3. Repeated hemarthrosis result in deformity, crippling and tissue atrophy of muscle around the joint.
  4. Bleeding into muscle- muscle hematoma is common in psoas and calf muscles. Psoas hematoma compress the femoral nerve resulting in sensory disturbance over thigh and quadriceps weakness. Calf hematomas result in contraction and shortening of Achilles tendon.
  5. Other bleeding manifestation-
  6. Bleeding from wound, bleeding from socket after dental extraction, easy bruising, intracranial hemorrhage and hematuria.

Investigation

  • Bleeding time, prothrombin time and platelet count are normal.
  • Activated partial thromboplastin time is typically prolonged.
  • Specific factor VIII assay can confirm the diagnosis.
  • Antenatal diagnosis- chorionic villous sampling at 8-9 weeks of gestation, fetal sexing and using informative fact VIII probe.

Management

  • local treatment-
  • Wound  and mucous membrane bleeding- local pressure applied digitally with pressure bandage or sutures. Topical hemostatic like adrenaline and thrombin.
  • Immobilization of wound by bandage, splinting etc.
  • Hematomas and hemarthrosis
  • In acute stage, elevation of affected part and immobilization by splinting and bandage should be used. Pain is relieved by analgesics like acetaminophen. Aspirin is contraindicated.
  • Physiotherapy
  • Replacement therapy, agent currently used for replacement therapy is cryoprecipitate and factor VIII concentrate iv.
  • Indication-
  1. Early  treatment of spontaneously bleeding episode.
  2. Established severe or prolonged wound and tissue bleeding.
  3. Control of bleeding during and after surgery and trauma.
  4. Calculation of dose: dose of factor VIII= desire factor level in % multiply by weight in kg multiply by 0.5
  5. Complication of therapy: hepatitis, HIV infection.