Hemophilia A screening: Difference between revisions
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*Screening for hemophilia A revolves around obtaining a thorough family history of bleeding. 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. | *Screening for hemophilia A revolves around obtaining a thorough family history of bleeding. 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. | ||
*Parents who either have hemophilia A or are known carriers of the disease should speak to a genetic specialist regarding the risks and benefits of prenatal testing. | *Parents who either have hemophilia A or are known carriers of the disease should speak to a genetic specialist regarding the risks and benefits of prenatal testing. | ||
*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, the embryos 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 reimplanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial. | *In some instances, [[assisted reproductive technology]] may allow women who are carriers of the disease to obtain “preimplantation diagnosis”. In this case, the embryos 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 reimplanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial. | ||
==References== | ==References== | ||
Revision as of 22:13, 29 July 2016
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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]
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Overview
Screening
- Screening for hemophilia A revolves around obtaining a thorough family history of bleeding. 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.
- Parents who either have hemophilia A or are known carriers of the disease should speak to a genetic specialist regarding the risks and benefits of prenatal testing.
- 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, the embryos 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 reimplanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial.