Hemophilia A laboratory findings
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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] Vahid Eidkhani, M.D.
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 very difficult[3].
Laboratory Findings
The typical coagulation profile of a patient with hemophilia A usually presents as the following:[4]
- Prolonged partial thromboplastin time (PTT)
- Normal prothrombin time(PT)
- Normal bleeding time(BT)
- Normal fibrinogen level
- Low factor VIII in Hemophilia A/ Low factor IX in Hemophilia B/ Low factor XI in Hemophilia C
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
- ↑ 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.
- ↑ 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
- ↑ Santoro C, Quintavalle G, Castaman G, Baldacci E, Ferretti A, Riccardi F; et al. (2018). "Inhibitors in Hemophilia B." Semin Thromb Hemost. doi:10.1055/s-0038-1660817. PMID 29925096.
- ↑ Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016