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Case #100011H-- Stacy Harris

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Anne Lonsway

on 20 November 2013

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Transcript of Case #100011H-- Stacy Harris

Case #100011H-- Stacy Harris
Frequently Asked Questions
What is the life expectancy of someone with hemophilia?
Genetic Testing
Prenatal Testing --
Chorionic villus
can be performed during the 10th/12th week of pregnancy. A small sample of the developing placenta is taken for testing.
Amniocentesis
can be preformed during the 13th week of pregnancy. A small amount of fluid containing fetal cells is removed and tested for hemophilia if the fetus is male.

What is Hemophilia?
Hemophilia is hereditary bleeding disorder in which the blood is unable to clot normally at the site of cut or scrape. Severe bleeding can become fatal and spontaneous internal bleeding can also occur in the joints and muscles.
Pedigree
What are the chances of my child getting hemophilia?
How serious is
hemophilia?
Karyotype
Mutations in the F9 gene causes Hemophilia A.
Any males produced by Stacy and her husband, will inherit the disorder. Although, any females produced by Stacy and her husband will not inherit the disorder
Hemophilia is an X-linked disorder, which means the genes that cause hemophilia reside on the X chromosome.
X chromosome with genes F8 and F9 affected
Each pregnancy has a 50% chance of resulting in a female carrier and a 50% chance of resulting in a male that is affected with the disorder Hemophilia.
Sources
(n.d.). Retrieved from http://www.thereforyou.com/understanding-hemophilia/hemophilia-genetics/


Genetics home refrence. (n.d.). Retrieved from http://ghr.nlm.nih.gov/gene/F8
(n.d.). Retrieved from http://www.cincinnatichildrens.org/health/h/hemophilia-test/
In Vitro Fertilization
-- Preimplantation genetic diagnosis is a screening test used to determine if a genetic or chromosomal disorders are present in embryos produced through IVF. This test screens embryos before they are transferred to the uterus. A couple can make an informed decison about their next steps in the IVF process.
Symptoms of Hemophilia
Excessive bruising
Swollen painful joints
Swollen/Tender muscles
Excessive bleeding after injuries or operations
Severe bleeding from gums, tongue, or mouth after injury
without adequate treatment, many people with hemophilia die before they reach adulthood.
varies depending on whether they receive proper treatment.
and children can look forward to a normal life expectancy.
with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia,
There are three levels of severity: mild, moderate, and severe.
Mild: bleeding only occurs after a serious injury or surgery
Moderate: bleeding occurs after injuries and some without obvious cause
Severe: frequent blood episodes, often in joints and muscles
Ethnic Concerns
Living with Hemophilia
stay away from contact sports
kids may need to wear protective gear everyday to prevent injury
home should be free of sharp objects and furniture with sharp corners
in some cases, counseling is prescribed
watch for signs of potential injuries daily
Treatment Options
Infusions of donated human blood can stop excessive bleeding
Slow injection of the hormone desmopressin (DDAVP) into a vein to stimulate a release of more clotting factor to stop bleeding
Antifibrinolytics is sometimes prescribed along with clotting factor replacement therapy
Depending on Stacy's beliefs, these testings may become a problem. For example, in vitro fertilization has abortion involved which goes against many religions and beliefs.
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