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﹢HEMOPHILIA

﹢Royal disease

﹢Bleeder's disease

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 What causes the disorder and what gene or chromosome is affected?

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 What causes the disorder and what gene or chromosome is affected?

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﹢A mutation in one of the genes

﹢ A gene that provide instructions on making clotting factor proteins necessary for blood clotting

﹢ Specifically the genes located in the X chromosome

﹢ Women have a higher chance of landing the disorder (XX)

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Are there prenatal tests for this disorder? If so, how are they tested?

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Are there prenatal tests for this disorder? If so, how are they tested?

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﹢Yes, prenatal testing is available for hemophilia. Through a technique known as chorionic villus biopsy (CVS)

﹢ A process where a needle gets inserted through the skin, into the womb to the placenta using previous image from an ultrasound scan

﹢ This allows a genetic analysis to determine if the fetus has inherited the hemophilia gene mutation

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﹢A diagnosis performs blood tests to test if the blood clotting was clotting appropriately.

﹢Clotting factor tests (aka factor assays) can also be performed to have the diagnosity of the bleeding disorder.

﹢This is also a form to measure what type of Hemophilia and how serve the the disorder is

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How does a person get this disorder? (Mutation or Inherited?)

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How does a person get this disorder? (Mutation or Inherited?)

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﹢It is inherited, thus, a person is born with the disorder

﹢ Passed down through families via the X chromosome

﹢ The most common type is hemophilia A, which is associated with a low level of factor 8

﹢Next most common type is hemophilia B, low level of factor 9

﹢Low level of factor refers to the clotting factor level

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 What are the symptoms or effects on the individual with this disorder? 

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 What are the symptoms or effects on the individual with this disorder? 

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﹢ unexplained and excessive bleeding from cuts or injuries,

﹢ many large or deep bruises

﹢ unusual bleeding after vaccinations

﹢ pain, swelling or tightness in your joints

﹢ Blood in your urine / stool

﹢ Nosebleeds without a known cause

﹢ In infants, unexplained irritability

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Which population is affected? (Males, females, certain ethnicities, etc?

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Which population is affected? (Males, females, certain ethnicities, etc?

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﹢Males are primarily affected despite the disorder being located in the X chromosome

﹢ Females can be carriers

﹢ It can occur in individuals of any ethnicity

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﹢There is no cure for hemophilia, although there are treatments.

﹢ If Hemophilia is very severe, then the clotting factor needs to be replaced through a tube in a vein. But could also be given through replacement therapy if a bleeding episode is in progress.

﹢ There is also a regular schedule that could be set at home to help prevent bleeding episodes.

﹢ Gene therapy is also being researched as a potential treatment

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What is the long-term outlook for an individual with this disorder?

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What is the long-term outlook for an individual with this disorder?

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﹢Individuals with hemophilia can live relatively normal lives through the process of proper treatment & management

﹢ Though not completely erasing the risk of complications caused by repeated bleeding episodes

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What is the current status of research on this disorder?

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What is the current status of research on this disorder?

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﹢There is still ongoing research which focuses on improving existing treatments and gaining a better understanding of the underlying genetic mechanisms of this disorder

﹢ There are clinical trials aimed towards providing long-term clotting factor expression

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 Information on support groups (if available)

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 Information on support groups (if available)

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﹢ There exists organizations, programs, financial aid, & even scholarships for individuals & families affected by hemophilia

﹢ World Federation of Hemophilia

﹢ National Hemophilia Foundation

﹢ as well as local community groups

﹢ Such support groups offer resources, education, & more for managing an improved quality of life

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﹢ https://www.cdc.gov/ncbddd/hemophilia/facts.html

﹢https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

﹢https://www.hog.org/handbook/article/1/3/severity-levels#:~:text=This%20is%20called%20the%20clotting,and%20still%20be%20considered%20normal.

﹢https://www.nhs.uk/conditions/chorionic-villus-sampling-cvs/what-happens/#:~:text=A%20needle%20is%20inserted%20through,removed%2C%20the%20needle%20is%20removed.