HemophiliaBy: Kyle Rossetti and Alysia Mascolo

Carrying Chromosome

F8 gene on the X chromosome

Information• Hemophilia is located on the F8 gene• The protein coded is FVIII

Symptoms•As babies they easily bruise on the stomach, chest, and back

•Prolonged nosebleeds

•Excessive bleeding from biting down on the lips or tongue

•Excessive bleeding following loss of a tooth

•Blood in the urine

•Internal bleeding

•Spontaneous bleeding

•Bleeding longer than others after injury

TreatmentReplacement therapy, concentrates of the absent clotting factor VIII are injected into the bloodstream. This therapy is usually frequent to prevent bleeding. There are also dangers though, your body might create anti-bodies to reject the clotting factor, viral infections if you use blood donations, and damage to joints from delays in treatment.

InheritanceHemophilia is a sex-linked mutation, an X linked recessive pattern.

Impact on Life• It is not very different from normal life, however

as a child it is harder. Young children should be observed and protected while playing. All hazards should be removed from the area such as sharp corners. The parents should make everyone aware of the child’s disease. As they get old and take medication, they should avoid taking blood thinners, such as aspirin. Also heavy contact sports should be avoided. Life span and risk for diseases are fortunately not affected.

Research Outlook• Currently scientists are trying to use gene

therapy to help find a cure. The goal is to be able to correct the defective genes that cause the disease. They haven’t figured it out yet but clinical trials are currently being done. Experiments with mice have also been done and it has been shown that transplanted cells have helped reduce the effects of hemophilia.

Interesting Facts

• An affected mother has 50% chance of passing the disease to her daughter.

• An affected father will always pass on the affected gene to his daughter.

• An affected father can never pass on the disease to his son.

Need More Information?• Go to http://

kidshealth.org/parent/medical/heart/hemophilia.html and http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html for more information.

• Some organizations are the National Hemophilia Foundation and Hemophilia Federation of America

Bibliography• "Hemophilia." KidsHealth. N.p., n.d. Web. 17 Apr 2011.

<http://kidshealth.org/parent/medical/heart/hemophilia.html>. • "Hemophilia." Genetics Home Reference. N.p., n.d. Web. 17 Apr 2011.

<http://ghr.nlm.nih.gov/condition/hemophilia>. • "Hemophilia." PubMed Health. N.p., n.d. Web. 17 Apr 2011.

<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001564/>. • "What is Hemophilia." Diseases and Conditions Index. N.p., n.d. Web. 17 Apr 2011.

<http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html>.

Pictures•http://ghr.nlm.nih.gov/dynamicImages/chromomap/F8.jpeg

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