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==Overview==
==Overview==
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]].<ref name="pmid25356200">{{cite journal| author=Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM et al.| title=A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report. | journal=Clin Case Rep | year= 2013 | volume= 1 | issue= 1 | pages= 3-6 | pmid=25356200 | doi=10.1002/ccr3.2 | pmc=4184532 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25356200  }} </ref> The diagnosis is made in the presence of very low (<10 IU) levels of [[factor VIII]].  
The diagnosis of [[Hemophilia A]] and B 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]].<ref name="pmid25356200">{{cite journal| author=Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM et al.| title=A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report. | journal=Clin Case Rep | year= 2013 | volume= 1 | issue= 1 | pages= 3-6 | pmid=25356200 | doi=10.1002/ccr3.2 | pmc=4184532 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25356200  }} </ref> The diagnosis is made in the presence of very low (<10 IU) levels of [[factor VIII]]/ IX.  
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> Development of these inhibitor antibodies in Hemophilia B patients is even much less common; but when present, they make the treatment process of the disease much more difficult. 


==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 partial thromboplastin time (PTT)
:*Prolonged partial thromboplastin time (PTT)
:*Normal prothrombin time
:*Normal prothrombin time
Line 15: Line 15:
:*Low factor VIII
:*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 include correction of the PTT with a 1:1 [[mixing study]] (i.e. factor VIII/ IX from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit)


==References==
==References==

Revision as of 11:20, 16 July 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2]

Overview

The diagnosis of Hemophilia A and B may be suspected as coagulation testing reveals an increased PTT in the context of a normal PT and bleeding time.[1] The diagnosis is made in the presence of very low (<10 IU) levels of factor VIII/ IX. A very small minority of patients has antibodies against factor VIII that impair its functioning. Management of these patients is more complicated.[2] Development of these inhibitor antibodies in Hemophilia B patients is even much less common; but when present, they make the treatment process of the disease much more difficult.

Laboratory Findings

The typical coagulation profile of a patient with hemophilia A usually presents as the following:[3]

  • 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 include correction of the PTT with a 1:1 mixing study (i.e. factor VIII/ IX from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit)

References

  1. Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM; et al. (2013). "A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report". Clin Case Rep. 1 (1): 3–6. doi:10.1002/ccr3.2. PMC 4184532. PMID 25356200.
  2. 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
  3. Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016

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