biology gentics project- hemophilia

HEMOPHILIA

DEFINITION:

- A hereditary blood defect usually in males that slows blood clotting with resulting difficulty in stopping bleeding.

- Sex-linked related genetic disease

-only females can be carriers

Occurs when a chromosome develops a abnormality mutation that affects the gene that determines the production of clotting factor

HISTORY:

The Jewish were the first to recognize hemophilia. Their doctors came up with the theory that if a woman had two sons who had died from being circumcised then the third son would not have to go through the process. It became known as the royal disease when it became known that Queen Victoria was a carrier and that she had passed the gene down to her daughters.

o Mothers can only be carries but the defected gene is passed from the father

SYMPTOMS:

- Pain and swelling located in joints and muscles

- Abnormal bleeding after an injury or bleeding

- Easy bruising

- Nosebleeds

- Blood in urine

- Prolonged bleeding after dental work or surgical procedures

CAUSES:

- Hemophilia A- caused by the absence of the functional clotting VIII.

- Hemophilia B- lack of Factor XII ;A protein to help with blood clotting is missing.

- Defect is on the X chromosome

- A woman who is a carrier has a 25% of passing hemophilia to her son while a man who is diagnosed with hemophilia will have a 100% chance of passing the defected gene to his daughter while the son does not get the gene.

HOW IS IT DIAGNOSED:

Usually diagnosed after a long period of bleeding from an injury, dental work or surgery.

WHAT IS THE TREATMENT / CURE:

Clotting factor replacement:

- FFP (fresh frozen plasma)- where frozen plasma

found in the blood is injected into the body and is provided from a donor and the plasma helps to create a normal blood clot

- Cryoprecipitate- contains all clotting factors and is less likely to transmit a disease

- Narcotics are the most efficient medications

- Antifibrinolytic agents- combined with a clotting factor and is also used in dental procedures and also nosebleeds.

- Fibrin glue and thrombin powder- is put directly onto the wound to stop minor bleeding ; Contains clotting factors

- Desmopressin acetate- mild or moderate hemophilia and would be used in dental or medical procedures

HOW IS IT PREVENTED:

It is hereditary so it cannot be prevented.

CURRENT RESEARCH:

Medical researchers are not yet sure why the chromosome mutates while in the egg.

There has been a gene therapy being develop on events that regulate gene expression.

SOURCES:

- WEBMD, August 13, 2009, Hemophilia

http://www.webmd.com/a-to-z-guides/hemophilia-cause

- National Hemophilia Foundation, 2006, Hemophilia A

http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=180&contentid=45&rptname=bleeding

- Hemophilia- Information, 2008, History of Hemophilia

FOUNDATION SERVICE:

http://www.hemophilia-information.com/history-of-hemophilia.html