hemophilia

Classification

• coagulation factor VIII deficiency (hemophilia A)*
• coagulation factor IX deficiency (hemophilia B)
• coagulation factor XI deficiency
• multiple coagulation factor deficiency

* hemophilia A is 10X more common than hemophilia B

Genetics

• family history of spontanous or unexpected bleeding

Clinical manifestations

• recurrent hemarthrosis leading to chronic, crippling degenerative joint disease
• intracranial hemorrhage

Laboratory

• prothrombin time (PT) is normal; INR is normal
• partial thromboplastin time (PTT) is prolonged
• confirm coagulation factor deficiency by a mixing study with normal plasma;
  • factor deficiency will correct with normal plasma
  • factor inhibitor will inhibit factor in normal plasma as well & will not correct

Differential diagnosis

• von Willebrand's disease
  • coagulation factor VIII deficiency without family history

Management

• blood transfusions & coagulation factor replacement for life-threateing bleeding

More general terms

• coagulation factor deficiency

More specific terms

• coagulation factor VII deficiency
• factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome
• hemophilia A; factor VIII deficiency
• hemophilia B; factor IX deficiency ; Christmas disease
• multiple coagulation factor deficiency 1 (MCFD1)

Additional terms

• coagulation factor antibody