Hemophilia A laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnosis may be suspected as coagulation testing reveals an increased [[partial thromboplastin time|PTT]] in the context of a normal [[prothrombin time|PT]] and [[bleeding time]]. The diagnosis is made in the presence of very low (<10 IU) levels of factor VIII. | The diagnosis of [[Hemophilia A]] may be suspected as [[coagulation]] testing reveals an increased [[partial thromboplastin time|PTT]] in the context of a normal [[prothrombin time|PT]] and [[bleeding time]]. The diagnosis is made in the presence of very low (<10 IU) levels of [[factor VIII]]. | ||
A very small minority of patients has [[antibodies]] against factor VIII that impair its functioning. Management of these patients is more complicated. <ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref> | A very small minority of patients has [[antibodies]] against factor VIII that impair its functioning. Management of these patients is more complicated. <ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref> | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
The typical coagulation profile of a patient with hemophilia A usually presents as the following: <ref> Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016 </ref> | The typical coagulation profile of a patient with hemophilia A usually presents as the following: <ref> Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016 </ref> | ||
:*Prolonged | :*Prolonged partial thromboplastin time (PTT) | ||
:*Normal prothrombin time | :*Normal prothrombin time | ||
:*Normal [[bleeding time]] | :*Normal [[bleeding time]] | ||
:*Normal [[fibrinogen]] level | :*Normal [[fibrinogen]] level | ||
:*Low | :*Low factor VIII | ||
Other laboratory findings consistent with the diagnosis of hemophilia A include correction of the PTT with a 1:1 mixing study (i.e. factor VIII from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit) | Other laboratory findings consistent with the diagnosis of hemophilia A include correction of the PTT with a 1:1 [[mixing study]] (i.e. factor VIII from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit) | ||
==References== | ==References== | ||
Revision as of 08:42, 27 March 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Fahd Yunus, M.D. [2]
Overview
The diagnosis of Hemophilia A may be suspected as coagulation testing reveals an increased PTT in the context of a normal PT and bleeding time. The diagnosis is made in the presence of very low (<10 IU) levels of factor VIII. A very small minority of patients has antibodies against factor VIII that impair its functioning. Management of these patients is more complicated. [1]
Laboratory Findings
The typical coagulation profile of a patient with hemophilia A usually presents as the following: [2]
- Prolonged partial thromboplastin time (PTT)
- Normal prothrombin time
- Normal bleeding time
- Normal fibrinogen level
- Low factor VIII
Other laboratory findings consistent with the diagnosis of hemophilia A include correction of the PTT with a 1:1 mixing study (i.e. factor VIII from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit)
References
- ↑ Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016
- ↑ Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016