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Hemophilia Case

Essay by   •  November 29, 2012  •  Case Study  •  510 Words (3 Pages)  •  1,158 Views

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Hemophilia is a rare bleeding disorder that causes your body not to clot properly. This means that if one were to obtain laceration of any size on any part of your body, you will not be able stop the blood flow by clotting. You can also bleed internally which can in turn damage your tissues and organs and may be life threatening.

Hemophilia is an inheritable disease meaning that is gets passed down from generation to generation. Hemophilia results in a mutation in the X chromosome which is the reason for it to be known as a 'X-Linked Disorder' (Hemophilia & Genetics). Men have only one X chromosome whereas women have two x chromosomes (Hemophilia & Genetics). That being said if a man has the mutated X chromosome then he will show symptoms and the disease will be active. A woman's extra X chromosome is a little more complicated. Since females have two X chromosomes, if one of the two is mutated then the woman is known as a carrier (Hemophilia & Genetics). Anyone classified as a carrier of almost any disease will show no signs or symptoms of the disease they carry, they only carry the allele for a disease/disorder which gives the potential to pass the disease/disorder along to their offspring. In recent years science has come far enough to have women tested to tell whether or not a woman possess they are carriers and there for at risk of making children with Hemophilia (Hemophilia & Genetics).

There are a few instances where different parents have the gene for hemophilia but may pass the trait in unexpected ways. The five scenarios can be explained using a little bit of genetic knowledge.

When an unaffected mother and a father with hemophilia have four children (two sons and two daughters) all of the girls will be carriers because of the one X chromosome the father has will be passed onto all the girls where as the boys will be completely healthy because the father with the mutation will be passing his healthy Y chromosome.

A mother who is a carrier paired with an unaffected father has a 25% chance of making a son with hemophilia, a daughter with the hemophilia allele, a healthy son and a healthy daughter(Hemophilia & Genetics). This is because out of the two X's the daughter will receive (X Chromosomes) the father contributes his healthy X and either a healthy X from the mother or the infected X chromosome. The boys will receive a Y from the father. The mother's X chromosome will be the sole determinant in the boys' condition when it comes to hemophilia (Hemophilia & Genetics). Figuring out whether a couple's odd of having a child with hemophilia can be pieced together fairly easily with use of a punett square. You can determine the rest of the outcomes for the other scenarios by putting the X & Y chromosomes into the two by two grid.

The main treatment for hemophilia is called replacement therapy. Concentrates of

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