Hemophilia A screening: Difference between revisions
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{{Hemophilia A}} | {{Hemophilia A}} | ||
{{CMG}} {{FNY}} | {{CMG}}{{AE}}{{FNY}} | ||
==Overview== | ==Overview== | ||
According to United States Preventive Services Task Force, screening for Hemophilia is not recommended in the whole population. | |||
In a person with clinical presentation compatible with hemophilia, screening for [[hemophilia A|Hemophilia]] revolves around obtaining a thorough [[family history]] of [[bleeding]], although a negative family history does not rule out the disease. | |||
==Screening== | ==Screening== | ||
Any individual with family history of excessive bleeding following trauma or surgery, or unexplained deaths in first degree relatives (usually males), should speak with a physician to discuss if hemophilia A may potentially have been a cause | Any individual with family history of excessive bleeding following [[trauma]] or [[surgery]], or unexplained deaths in first degree relatives (usually males), should speak with a physician to discuss if hemophilia A may potentially have been a cause<ref>Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/ </ref> | ||
*Parents who either have hemophilia | *Parents who either have hemophilia or are known [[carriers]] of the disease should speak to a genetic specialist regarding the risks and benefits of [[prenatal testing]].<ref>Carriers: When to test for carrier status [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-when-to-test-for-carrier-status-en. Accessed on Sept 20, 2016 </ref> | ||
*[[Chorionic villus sampling]] (CVS) may be performed between weeks 11-12 of gestation in women who are known carriers of the hemophilia gene to determine if their offspring have the disease | *[[Chorionic villus sampling]] (CVS) may be performed between weeks 11-12 of gestation in women who are known carriers of the hemophilia gene to determine if their offspring have the disease. | ||
*In some instances, [[assisted reproductive technology]] may allow women who are carriers of the disease to obtain “preimplantation diagnosis”. In this case, | *In some instances, [[assisted reproductive technology]] may allow women who are carriers of the disease to obtain “preimplantation diagnosis”. In this case, female eggs would be removed and fertilized by semen in a laboratory. They would then be tested for the presence of the hemophilia gene, and only embryos without the disorder would be re-implanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial.<ref>Carriers: Prenatal Diagnosis [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-prenatal-diagnosis-en. Accessed on Sept 20, 2016 </ref> | ||
==References== | ==References== | ||
Latest revision as of 16:56, 14 July 2018
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Hemophilia A Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hemophilia A screening On the Web |
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American Roentgen Ray Society Images of Hemophilia A screening |
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Risk calculators and risk factors for Hemophilia A screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2]
Overview
According to United States Preventive Services Task Force, screening for Hemophilia is not recommended in the whole population.
In a person with clinical presentation compatible with hemophilia, screening for Hemophilia revolves around obtaining a thorough family history of bleeding, although a negative family history does not rule out the disease.
Screening
Any individual with family history of excessive bleeding following trauma or surgery, or unexplained deaths in first degree relatives (usually males), should speak with a physician to discuss if hemophilia A may potentially have been a cause[1]
- Parents who either have hemophilia or are known carriers of the disease should speak to a genetic specialist regarding the risks and benefits of prenatal testing.[2]
- Chorionic villus sampling (CVS) may be performed between weeks 11-12 of gestation in women who are known carriers of the hemophilia gene to determine if their offspring have the disease.
- In some instances, assisted reproductive technology may allow women who are carriers of the disease to obtain “preimplantation diagnosis”. In this case, female eggs would be removed and fertilized by semen in a laboratory. They would then be tested for the presence of the hemophilia gene, and only embryos without the disorder would be re-implanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial.[3]
References
- ↑ Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/
- ↑ Carriers: When to test for carrier status [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-when-to-test-for-carrier-status-en. Accessed on Sept 20, 2016
- ↑ Carriers: Prenatal Diagnosis [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-prenatal-diagnosis-en. Accessed on Sept 20, 2016