Screening Laboratory Test Results and Treatment of Inherited Blood Coagulation Deficiency*

Factor XII, high molecular weight kininogen, or prekallikrein

PTT long

PT normal

Laboratory test abnormality without clinical bleeding

Specific assays required to distinguish from factor XI deficiency, in which posttraumatic and perioperative bleeding may occur

No treatment required

Factor XI

PTT long

PT normal

Autosomal recessive

Increased frequency in patients of Ashkenazi Jewish ancestry

Posttraumatic and perioperative bleeding

Diagnosis by specific factor assay

For treatment of bleeding: recombinant human factor VIIa or fresh frozen plasma, plus inhibition of fibrinolysis by aminocaproic acid or tranexamic acidFor treatment of bleeding: recombinant human factor VIIa or fresh frozen plasma, plus inhibition of fibrinolysis by aminocaproic acid or tranexamic acid

Plasma factor XI half-life = 50 hours

Factor VIII or IX

PTT long

PT normal

Factor VIII deficiency (hemophilia A)

Factor IX deficiency (hemophilia B)

X-linked transmission

Mild or severe bleeding in males, depending on factor VIII or factor IX level

For treatment of bleeding: factor replacement

Plasma factor VIII half-life = 8–12 hours

Plasma factor IX half-life = 18 hours

Factor VII

PTT normal

PT long

Autosomal recessive, rare

Diagnosed by specific factor assay

For treatment of bleeding: Recombinant activated factor VII or plasma-derived factor VII concentrate

Plasma factor VII half-life = 4–6 hours

Factor X, factor V, or prothrombin

PTT long

PT long

Autosomal recessive, rare

Mild to severe bleeding

Diagnosed by specific assays

For treatment of bleeding due to factor X or prothrombin deficiency:

• Fresh frozen plasma

• Prothrombin complex concentrateProthrombin complex concentrate

• Plasma-derived factor X concentrate

For treatment of bleeding due to factor V deficiency: Fresh frozen plasma with or without platelet concentrates (to supply platelet factor V)

Plasma half-life of factor X = 40–60 hours

Plasma half-life of prothrombin = 60–72 hours

Plasma half-life of factor V = 36 hours

Fibrinogen

In afibrinogenemia (fibrinogen < 10 mg/dL [< 0.1 g/L]), no clotting in PTT or PT because machine end point is not triggered

In hypofibrinogenemia (fibrinogen 70–100 mg/dL [0.7–1 g/L]), PTT and PT often prolonged by several seconds and thrombin time longIn hypofibrinogenemia (fibrinogen 70–100 mg/dL [0.7–1 g/L]), PTT and PT often prolonged by several seconds and thrombin time long

Autosomal recessive, rare

Severe bleeding in afibrinogenemia (homozygous state)

Posttraumatic and perioperative bleeding in hypofibrinogenemia (heterozygous state)

For treatment of bleeding:

• Cryoprecipitate (contains fibrinogen, as well as the VWF–factor VIII complex and factor XIII)

• Fresh-frozen plasma

• Plasma-derived fibrinogen concentrate Plasma-derived fibrinogen concentrate

Plasma half-life of fibrinogen = 2–4 days

Dysfibrinogenemia

PTT long

PT long

Thrombin time longThrombin time long

Autosomal dominant, rare†

Various manifestations (no, or only mild, posttraumatic and perioperative bleeding, tendency for thrombosis, wound dehiscence)

Fibrinogen low in clotting assay but normal in immunologic assay

Factor XIII

PTT normal

PT normal

Thrombin time normalThrombin time normal

Clot lysis in 5M ureaClot lysis in 5M urea

Autosomal recessive, rare

Poor wound healing

Spontaneous abortion

For treatment of bleeding:

• Plasma-derived factor XIII concentratePlasma-derived factor XIII concentrate

• Recombinant factor XIII A chain

• Cryoprecipitate (contains factor XIII)

• Fresh frozen plasma

Plasma half-life of factor XIII = 9–12 days

Alpha 2-antiplasmin

PTT normal

PT normal

Clot lysis times in 5M urea or saline acceleratedClot lysis times in 5M urea or saline accelerated

Autosomal recessive, rare‡

Severe bleeding in homozygotes

Posttraumatic and perioperative bleeding in heterozygotes

Specific assay required for confirmation of diagnosis

For treatment of bleeding: Inhibition of excessive fibrinolysis using aminocaproic acid or tranexamic acidFor treatment of bleeding: Inhibition of excessive fibrinolysis using aminocaproic acid or tranexamic acid