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Hemophilia Meaghan

Page history last edited by Meaghan M. 7 years ago

Hemophilia

by Meaghan Matthews

 

General description of what genetic disorders are and how they are passed along to offspring:

     A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are very rare. A genetic disorder may or may not be a heritable disorder, some are passed down from the parents' genes, but others are almost always caused by mutations or changes to the DNA.

Genetic disorders can be inherited too. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Genetic diseases can be dominant genetic disease, recessive genetic diseases, or sex-linked genetic diseases.

 

Description of Hemophilia:

Hemophilia is a bleeding disorder that slows down the blood clotting process. People with hemophilia bleed longer after an injury or surgery than someone without the condition. Hemophilia occurs more in men than women. Hemophilia is an example of a sex-linked genetic disorder. It most often affects males. It is caused by a lack of enough factor VIII or IX.

How humans are affected:

Hemophilia cause problems with the blood clotting process

Many people with hemophilia are able to live their lives normally, but some patients have major bleeding events, most commonly into the joints.

A small percentage of people with hemophilia may die from severe bleeding.

Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood.

Symptoms:

The main symptom of hemophilia is bleeding.

Mild cases may go unnoticed until later in life, when they occur during surgery or after trauma.

In more severe cases, serious bleeding can occur without any cause, internal bleeding may occur anywhere, and bleeding into joints is common.

Treatment and side effects of treatment:

Hemophilia is diagnosed after a person has an abnormal bleeding episode or when there is a known family history of the condition.

Standard treatment involves replacing the missing clotting factor through a vein (intravenous infusions).

Gene Therapy for Hemophilia:

"Medical researchers in Britain have successfully treated six patients suffering from the blood-clotting disease known as hemophilia B by injecting them with the correct form of a defective gene, a landmark achievement in the troubled field of gene therapy. Hemophilia B, which was carried by Queen Victoria and affected most of the royal houses of Europe, is the first well-known disease to appear treatable by gene therapy, a technique with a 20-year record of almost unbroken failure."- The New York Times

 

 

 

There are no controversies on this genetic disorder or its treatments.

 

Bibliography: 

http://www.genome.gov/20019697

http://en.wikipedia.org/wiki/Genetic_disorder

http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

http://www.givf.com/geneticservices/howisgeneticdiseaseinherited.shtml

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001564/

http://www.nytimes.com/2011/12/11/health/research/hemophilia-b-gene-therapy-breakthrough.html?_r=0

 

Images:

http://www.doctortipster.com/wp-content/uploads/2011/11/Hemophilia-Symptoms.jpg

http://www.thediamondjubilee.org/sites/www.thediamondjubilee.org/files/styles/lightbox/public/Queen-Victoria-Official-DJ-Portrait.jpg

 

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