Condensed Case

A 7-year-old child had a fall from a piece of playground equipment. After 24 hours, he developed a deep hematoma in his right thigh and his parents brought him to the emergency department to be evaluated. His family history did not give any indication of any previous bleeding from birth or otherwise. What tests should be ordered to rule out a coagulation defect?


Although his family history does not indicate a clotting factor abnormality, preliminary clotting tests should include a bleeding time, PT, and aPTT. This patient has a normal PT but an aPTT of 50 seconds (reference range, 20 to 38 seconds). A factor assay was performed and indicated a mild factor VIII activity of 40% with a reference range of 50% to 150% activity. The patient was diagnosed with mild hemophilia A. This accident brought a previously undiagnosed condition to light. This is important information in this patient's personal and medical history. Future surgeries or traumas will need to be carefully monitored.

Summary Points

• Patients with recurrent bleeding episodes need to be evaluated for an inherited bleeding disorder.

• Bleeding comes under two main categories: open bleeds or closed bleeds.

• Plasma clotting factors need to maintain approximately 30% activity to achieve adequate clotting.

• The factor VIII molecule is carried into plasma by vWF.

• Hemophilias A and B are sex-linked recessive disorders.

• In hemophilia A, factor VIII is deficient; in hemophilia B, factor IX is deficient.

• Women are carriers of the defective hemophilia gene.

• Individuals with hemophilia experience prolonged bleeding from minor wounds.

• Individuals with hemophilia may experience many types of bleeding including joint bleeding leading to hemarthrosis, hematomas, umbilical cord bleeding, or mucosal bleeds.

• The bleeding time is normal in hemophilia A and B patients; the aPTT is elevated.

• Current treatment for hemophilia individuals consists of recombinant factor products.

• Most individuals with hemophilia in the United States use factor concentrates prophylactically.

• Prophylactic infusion of factor concentrates has minimized the physical disabilities that may have occurred from unexpected bleeding episodes.

• From 15% to 20% of all hemophilia A individuals develop factor VIII inhibitors.

• Individuals with factor II, V, VII, and X deficiencies may have minimal bleeding.

• Prothrombin complex concentrate is used to correct deficiencies of factors II, VII, IX, and X.

• Prothrombin G20210A is a mutation of the prothrombin molecule.

• Factor V Leiden is a genetic mutation of the factor V molecule that predisposes to clotting episodes.

• Deficiencies of factors XI, XII, Fletcher, and Fitzgerald usually lead to increased thrombotic events.

• Factor XIII is unique among clotting factors because it is a transglutaminase; the other clotting factors are proteases.

• An inherited deficiency of factor XIII may lead to poor wound healing and spontaneous abortions.

• Liver disease, renal disease, and autoimmune processes may lead to deficiencies in clotting factors that cause bleeding.

• Vitamin K is a fat-soluble vitamin necessary for the activation of factors II, VII, IX, and X.

• Vitamin K is available through the diet; small amounts are synthesized by normal intestinal flora.

• Newborns are vitamin K deficient and are given vitamin K at birth to avoid hemorrhagic disease of the newborn.

• If vitamin K is depleted, the PT and PTT will be prolonged.

• Coumadin, a therapeutic anticoagulant, is a vitamin K antagonist.

A 54-year-old woman was admitted to the hospital with hematuria, anemia, easy bruising, and progressive weakness. She gave no previous bleeding history or family history of bleeding even though she had multiple surgeries in the past. Her surgeries included knee replacement. During this admission, she is complaining of a deep bruise in her right upper thigh and hematuria. Her admitting laboratory data included the following:

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