Hemophilia screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemophilia}} | {{Hemophilia}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{Sab}} | ||
==Overview== | ==Overview== | ||
Initial [[Screening (medicine)|screening]] [[blood]] investigations for any [[child]] with suspected [[Coagulopathy|bleeding disorder]] include [[platelet]] count, [[Prothrombin time|prothrombin time (PT)]], [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]], and [[fibrinogen]] [[test]]. [[Chorionic villus sampling]] at 11-14 weeks of [[gestation]] can be performed for the [[Genetics|genetic]] [[diagnosis]] of hemophilia. | |||
==Screening== | ==Screening== | ||
*Initial [[Screening (medicine)|screening]] [[blood]] investigations for any [[child]] with suspected [[Coagulopathy|bleeding disorder]] include [[platelet]] count, [[Prothrombin time|prothrombin time (PT)]], and [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]], and [[fibrinogen]] [[test]].<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref><ref name="pmid17605969">{{cite journal |vauthors=Kamal AH, Tefferi A, Pruthi RK |title=How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults |journal=Mayo Clin. Proc. |volume=82 |issue=7 |pages=864–73 |date=July 2007 |pmid=17605969 |doi=10.4065/82.7.864 |url=}}</ref><ref>https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref> | |||
=== | *Bethesda assay (to detect and quantify factor VIII [[antibodies]] in acquired hemophilia)<ref name="pmid30653138">{{cite journal |vauthors=Qian L, Ge H, Hu P, Zhu N, Chen J, Shen J, Zhang Y |title=Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report |journal=Medicine (Baltimore) |volume=98 |issue=3 |pages=e14119 |date=January 2019 |pmid=30653138 |doi=10.1097/MD.0000000000014119 |url=}}</ref><ref name="pmid23546724">{{cite journal |vauthors=Duncan E, Collecutt M, Street A |title=Nijmegen-Bethesda assay to measure factor VIII inhibitors |journal=Methods Mol. Biol. |volume=992 |issue= |pages=321–33 |date=2013 |pmid=23546724 |doi=10.1007/978-1-62703-339-8_24 |url=}}</ref> | ||
*[[Chorionic villus sampling]] at 11-14 weeks of [[gestation]] can be performed for the [[Genetics|genetic]] [[diagnosis]] of hemophilia.<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref> | |||
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*[[Chorionic villus sampling | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 18:05, 29 May 2019
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Hemophilia screening On the Web |
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American Roentgen Ray Society Images of 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
Initial screening blood investigations for any child with suspected bleeding disorder include platelet count, prothrombin time (PT), activated partial thromboplastin time (aPTT), and fibrinogen test. Chorionic villus sampling at 11-14 weeks of gestation can be performed for the genetic diagnosis of hemophilia.
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.