Hemophilia screening

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

Screening

Initial screening blood investigations for any child with suspected bleeding disorder include platelet count, prothrombin time (PT), and activated partial thromboplastin time (aPTT), and fibrinogen test.^[1]^[2]^[3]
Bethesda assay (to detect and quantify factor VIII antibodies in acquired hemophilia)^[4]^[5]
Chorionic villus sampling at 11-14 weeks of gestation can be performed for the genetic diagnosis of hemophilia.^[1]

References

↑ ^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.
↑ 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.
↑ https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
↑ Qian L, Ge H, Hu P, Zhu N, Chen J, Shen J, Zhang Y (January 2019). “Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report”. Medicine (Baltimore). 98 (3): e14119. doi:10.1097/MD.0000000000014119. PMID 30653138.
↑ Duncan E, Collecutt M, Street A (2013). “Nijmegen-Bethesda assay to measure factor VIII inhibitors”. Methods Mol. Biol. 992: 321–33. doi:10.1007/978-1-62703-339-8_24. PMID 23546724.

Overview