HEmophilia
Hemophilia is an inherited sex-linked bleeding disorder in which the blood does not properly clot.
Blood contains protein called clotting factors to help stop bleeding. They are numbered one through thirteen in roman numerals. Persons with hemophilia have low levels/none of these clotting factors. The lower the levels they have the more serious the hemophilia.
Blood contains protein called clotting factors to help stop bleeding. They are numbered one through thirteen in roman numerals. Persons with hemophilia have low levels/none of these clotting factors. The lower the levels they have the more serious the hemophilia.
Statistics
- occurs among 1 in every 5,000 male births
- currently about 20,000 males in the US have hemophilia
- Hemophilia A(which we will learn about later) is 4 times as common as Hemophilia B
- 1/2 affected have the severe form
- hemophilia affects people from all racial and ethnic groups
Genotype
The gene for hemophilia is X-linked recessive. The possible genotypes include:
Phenotypic effects
Hemophilia can result in joint swell in which can cause damage and swelling in the muscles. Bleeding in the head, and sometimes brain, can result in brain damage. Hemophilia can also result in pain and damage in various organs as a result of bleeding. If the bleeding cannot be stopped or if it occurs in a vital organ(e.g. the brain) it may result in death.