CHAPTER 10

Hemophilia

CHAPTER OBJECTIVES

• Describe the etiology and various forms of hemophilia.
  
• Detail phenotypic features, symptoms, and physical examination findings associated with hemophilia.
  
• Discuss variable expressivity of genes.
  
• Identify bleeding disorders associated with hemophilia.
  
• Review current diagnosis, treatment, and surveillance recommendations for hemophilia.

KEY TERMS

Acquired hemophilia

Acquired von Willebrand’s disease

Autoantibody

Bleeding diathesis

Carrier

Cephalohematoma

Clotting factor

Coagulation

De novo mutations

Deletion

Desmopressin acetate

Disseminated intravascular coagulation

Factor assay

Factor deficiency

Factor inhibitors

Factor replacement therapy

Hemarthroses

Hematoma

Hemophilia

Hemophilia A

Hemophilia B

Hemophilia B Leyden

Hemophilia C

Hemophilia treatment centers

Hemostasis

Menorrhagia

Mild hemophilia

Missense mutation

Moderate hemophilia

Proband

Severe hemophilia

Spontaneous bleeding

Thrombocytopenia

Variable expressivity

Von Willebrand’s disease

X-linked recessive

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