Thursday 26 May 2016

Genetics



The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner.  Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.
But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Hemophilia can occur in daughters, but is rare.
For a female carrier, there are four possible outcomes for each pregnancy:
  1. A girl who is not a carrier
  2. A girl who is a carrier
  3. A boy without hemophilia
  4. A boy with hemophilia
Severity
(percentage breakdown of overall hemophilia population by severity)
  • Severe (factor levels less than 1%) represent approximately 60% of cases
  • Moderate (factor levels of 1-5%) represent approximately 15% of cases
  • Mild (factor levels of 6%-30%) represent approximately 25% of cases 




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