The list of medical tests mentioned in various sources as used in the diagnosis of Hemophilia includes:
The following medical news items are relevant to diagnosis and misdiagnosis issues for Hemophilia:
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Development of a large cephalohematoma or intracranial hemorrhage after prolonged labor or delivery by forceps or vacuum extraction may be the first indication of a bleeding problem. After the neonatal period, a history of prolonged bleeding after surgery (including dental extractions) or trauma or of episodes of spontaneous bleeding into muscles or joints usually indicates some defect in the hemostatic mechanism. Hemophilia A and B may be clinically indistinguishable, but specific coagulation factor assays can diagnose the type and severity of the disease. A positive family history, prenatal diagnosis, and carrier testing can also help diagnose hemophilia, but nearly one-third of all patients have no family history.
Characteristic findings in hemophilia A include:
❑ factor VIII-C assay, 0% to 30% of normal
❑ prolonged partial thromboplastin time (PTT)
❑ normal platelet count and function, bleeding time, and prothrombin time.
Characteristics of hemophilia B include:
❑ deficient factor IX-C
❑ baseline coagulation results similar to hemophilia A, with normal factor VIII.
In both types of hemophilia, the degree of factor deficiency determines severity:
❑ mild hemophilia — factor levels 5% to 40% of normal
❑ moderate hemophilia — factor levels 1% to 5% of normal
❑ severe hemophilia — factor levels less than 1% of normal.
Source: Professional Guide to Diseases (Eighth Edition), 2005
A history of prolonged bleeding after trauma or surgery (including dental extractions) or of episodes of spontaneous bleeding into muscles or joints usually indicates some defect in the hemostatic mechanism.
Specific coagulation factor assays can diagnose the type and severity of hemophilia. A positive family history can also help diagnose hemophilia, but 20% of all cases have no family history.
Characteristic findings in hemophilia A include:
❑ factor VIII assay 0% to 30% of normal
❑ prolonged partial thromboplastin time (PTT)
❑ normal platelet count and function, bleeding time, and prothrombin time.
Characteristics of hemophilia B include:
❑ deficient factor IX-C
❑ baseline coagulation results similar to those in hemophilia A, with normal factor VIII.
In hemophilia A or hemophilia B, the degree of factor deficiency determines severity:
❑ mild hemophilia — factor levels 5% to 40% of normal
❑ moderate hemophilia — factor levels 1% to 5% of normal
❑ severe hemophilia — factor levels less than 1% of normal.
Source: Handbook of Diseases, 2003
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