Genetic Diseases

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by soeadebvd
Last updated 7 years ago

Human Anatomy

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Genetic Diseases

Hemophilia results from a genetic change on the X chromosome. Since females have two X chromosomes, they are not affected by hemophilia, as the other X can make up for the defective/missing Factor VIII gene. Females can be a carrier for hemophilia and pass down their defective gene. Males are either affected by hemophilia or not, as they only have one X chromosome. If a son inherits the defective X from his mother, he will have hemophilia. However, males can only pass on hemophilia to their daughters, not sons (as they inherit the Y chromosome). Due to the gene's presence on the X chromosome, it is far more common for hemophilia to affect males.

Oftentimes, the effects of severe hemophilia are seen just after birth, while milder cases may not be seen until later in life. Severe cases (less than 1% clotting factor) can have spontaneous bleeding episodes and cannot clot after injury. Moderate (2-5%) have bleeding episodes after injury. Mild (6-49%) usually only bleed after injury and may not be seen until adulthood.

Genetic Diseases

Hemophilia A results from a Factor VIII deficiency, where the blood cannot clot properly. It is caused either by inherited genes from the parents, or a spontaneous mutation (1/3 of cases) of the gene. Some females can also carry the genetic disorder without being affected by it.

Hemophilia can be treated by recombinant clotting factor, where artificial Factor VIII is given to the patient on a set schedule in order for them to make blood clots.

Hemophilia A"Classic" Hemophilia

Symptoms of Hemophilia


Symptoms:-Bleeding into joints/muscles-bruising-uncontrollable bleeding-nosebleeds-spontaneous bleeding-bloody urine

Those affected by hemophilia generally livenormal lives, with some precautions. Contact sports are not recommended, as they increase the risk for bleeding, and a medical alert braceletis necessary in case of a bleeding episode to inform medical professionals of the condition.


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