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Jessica Krupinski

on 13 March 2011

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Transcript of Hemophilia

Jessica Krupinski
2/24/11 Type/Cause of Hemophilia:
caused by a dysfuncitonal or absent blood-clotting protein
male- inherits the disease when he gets the X chromosome with a mutated factor gene from the mother, mutate during egg production, or the development of the embryo
recessive trait
due to a mutation of one X chromosome
the gene that causes Hemophilia is an X-linked gene Description of Hemophilia:
symptoms- are excessive bleeding and easy bruising
the human body is apt to loose a great deal of blood
can occur internally in the joints or brain and externally on the body Characteristics of Hemophilia:
following treatment plan, getting regular checkups and vaccines recommended by doctors, informing everyone of the condition, and knowing the signs and symptoms of bleeding is how everyday life is like for a person with hemophilia
a normal quality life can be lead if all precautions are taken
avoiding contact sports and avoiding certain medicines are some limitations
life expectancy of a patient without the proper treatment will die before adulthood however with proper treatment, they will live 10 years less than a normal male Diagnosis/Detection of Hemophilia:
medical history is observed, physical exams are done, and blood testing is how a person is diagnosed with hemophilia
blood testing is done to see how long it takes blood to clot, if there are low levels of clotting factors, and if there are any factors missing
testing is done if a woman believes she is a carrier 10 weeks into her pregnancy
genetic counseling can be done by observing medical history to see if anyone has had a history of heavy and/or frequent bleeding and bruising Incidence of Hemophilia:
18,000 Americans alone suffer from hemophilia
the world has about 400,000 people with hemophilia
approximately 1 in 5,000 men are born with hemophilia
about 400 babies are born each year with this disorder
specifically affects the male population and very rarely the females Treatment/Cures of Hemophilia:
replacement therapy is the main treatment used where doctors insert the missing clotting factor or replace it if it is too low
in severe cases, preventative therapy can be used
some kinds of medicines used for symptoms are Factor VIII or IX in replacement therapy, pain relievers that do not restrict blood clotting, topical medicines, and DDAVP
some alternatives to medicines are CAM treatments which are mind-body therapys to relieve stress and anxiety, avoiding certain foods and nutrients that prevent blood clotting, and exercising within reason
there is no cure for hemophilia
this disorder leaves damage to joints, muscles, and possibly severe blood loss Prognosis:
if a person receives proper treatment, they are able to lead a normal life
life expectancy without any treatment, the person will die before adulthood
however with treatment, the person will live 10 years less than a male without the disease History of Hemophilia:
first discovered by physician, Moses Maimonides in the 1100's
Dr. John Conrad Otto wrote the first modern description in 1803
Hemophilia B was distinguished in 1952
Samuel Lane controlled a hemophilic boy's bleeding after a blood transfusion that did not contain hemophilia in 1840
Dr. Judith Pool discovered taht by forcing a slow thawing plasma could create ways to treat a person with this disorder at home or anywhere in 1965 Research of Hemophilia
National Cancer Institute research on hematologic abnormalities in AIDS
NHLBI supported research of now understanding how clot formation in inhibited in bleeding disorders Organizations:
National Hemophilia Foundation- http://www.hemophilia.org/home.htm
Gene Clinics- http://www.geneclinics.org
World Federation of Hemophilia- http://www.wfh.org
NCBI Genes and Disease- http://www.ncbi.nlm.nih.gov/books/NBK22260/ Facts About Hemophilia:
female carriers can experience mild symptoms
treatments are costly and may require life long infusion of the clotting factor
80% of people born with hemophilia have type A and 20% have type B
there are 13 clotting proteins in the body
internal bleeding in the joints causes the most problems because it can lead to arthritis Works Cited:
"Hemophilia: What is it?." Your Genes, Your Health. N.p., n.d. Web. 13 Mar. 2011. <http://www.ygyh.org/hemo/whatisit
"Hemophilia cause, hemophilia factors, genes." National Heart, Lung and Blood Institute. N.p., n.d. Web. 13 Mar. 2011. <http://www.nhlbi.nih.gov/health/
"WFH - FAQ." World Federation of Hemophilia. N.p., n.d. Web. 13 Mar. 2011. <http://www.wfh.org/2/1/1_1_1_
"WFH - History of Hemophilia." World Federation of Hemophilia. N.p., n.d. Web. 13 Mar. 2011. <http://www.wfh.org/2/1/1_1_3_HistoryHemophilia
"hemophilia." The Worlds of David Darling. N.p., n.d. Web. 13 Mar. 2011. <http://www.daviddarling.info/encyclopedia
"Hemophilia." University of Maryland Medical Center | Home. N.p., n.d. Web. 13 Mar. 2011. <http://www.umm.edu/altmed/articles/hemophilia-000076.htm>.
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