Hemophilia diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]

Overview

Coagulation tests and coagulation assays are the gold standard for the diagnosis of hemophilia. Prolonged activated partial thromboplastin time (aPTT), normal prothrombin time (PT), prolonged bleeding time (BT), and normal fibrinogen concentration are diagnostic of hemophilia. Coagulation tests should be followed by measuring the clotting factors level by coagulation assays. Once the coagulation discrepancy has been established, individual clotting factor assay can be performed to determine the deficient/absent clotting factor. Bethesda assay can be performed in the case of acquired hemophilia to detect and quantify antibodies directed against factor VIII.

Diagnostic Study of Choice

The following result of the coagulation tests and coagulation assays is confirmatory of hemophilia:

References

  1. 1.0 1.1 Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A (July 2018). "Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia". Indian Pediatr. 55 (7): 582–590. PMID 30129541.
  2. 2.0 2.1 Kamal AH, Tefferi A, Pruthi RK (July 2007). "How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults". Mayo Clin. Proc. 82 (7): 864–73. doi:10.4065/82.7.864. PMID 17605969.
  3. 3.0 3.1 Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K (2018). "[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis]". J. UOEH (in Japanese). 40 (4): 331–337. doi:10.7888/juoeh.40.331. PMID 30568085.
  4. https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  5. Gamage M, Weerasinghe S, Nasoor M, Karunarathne A, Abeyrathne SP (2018). "Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A". Case Rep Hematol. 2018: 6208597. doi:10.1155/2018/6208597. PMC 6220402. PMID 30473893. Vancouver style error: initials (help)
  6. 6.0 6.1 6.2 Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R (May 2018). "Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature". Am J Case Rep. 19: 582–588. doi:10.12659/AJCR.908854. PMC 5993004. PMID 29780157.
  7. https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  8. 8.0 8.1 Eyster ME, Gordon RA, Ballard JO (October 1981). "The bleeding time is longer than normal in hemophilia". Blood. 58 (4): 719–23. PMID 6791725.
  9. Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J (February 1986). "Bleeding time in hemophilia A: potential mechanisms for prolongation". J. Pediatr. 108 (2): 215–8. PMID 3753724.
  10. Mannucci PM, Tuddenham EG (June 2001). "The hemophilias--from royal genes to gene therapy". N. Engl. J. Med. 344 (23): 1773–9. doi:10.1056/NEJM200106073442307. PMID 11396445.



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