Hemophilia

By: Kimanh Nguyen

//Hemophilia is a hereditary genetic disorder that disrupts a body’s ability to control blood clotting. There are three common form of it: Hemophilia A , Hemophilia B , and Hemophilia C . //

v Type of Genetic Mutation:


 * Ø Hemophilia B is a frame shift mutation.

v Type of Genetic Relationship/ Inheritance:


 * Ø It is a sex-linked recessive disorder.

v Causes:


 * Ø Hemophilia A is caused by the lack of functional factor VIII.
 * Ø Hemophilia B is caused by the lack of functional factor IX.
 * Ø Hemophilia C is caused by the lack of functional factor XI.

v Symptoms:


 * Ø Excessive bleeding (even from minor cuts and bruises)
 * Ø Joint damages
 * Ø Intracranial hemorrhage

v Epidemiology:


 * Ø Hemophilia is more common in males.
 * Ø Females tend to be the carrier of it; however, in a study, mild hemophilia is more common in carriers than once thought.
 * Ø Hemophilia A has been seen to have similar distributions in all races and ethnic groups.

v Diagnosis:


 * Ø Can be detected by blood tests to determine the missing or low levels of clotting factors.

v Prognosis:


 * Ø Severe joint damage from many bleeding into joints
 * Ø Blood-born infection
 * Ø Development of inhibitor antibodies

v Treatment:


 * Ø For prevention: Replace missing clotting factors with concentrates of clotting factors.
 * Ø For excessive bleeding: blood transfusions

v Interesting Facts:


 * Ø Each year, approximately one in five thousand males are born with hemophilia.
 * Ø There are two main types of Hemophilia, A and B. Out of ten people who have hemophilia, nine have type A.
 * Ø Hemophilia patients who received contaminated blood supplies are at risk for obtaining HIV and hepatitis.

References
 * 1) []
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 * 5) Lander, Eric. “Chapter 15: The Chromosomal Basis of Inheritance.”2005. Retrieved from Biology Seventh Edition.
 * 6) [|http://emedicine.medscape.com/article/779322-overview#a0156]