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Christiane - Haemophilia

Page history last edited by Christiane M 7 years, 3 months ago

Haemophilia

By: Christiane Malone

 

The Google definition for genetic disorder is "a disease or disorder that is inherited genetically" which means that it is handed down within families’ family through their genes.

 

As a genetic disorder, haemophilia is passed in one of two ways. The genetic disorder is primary passed (67% of the time) to offspring through mutations in hereditary X-chromosomes. The other 33% of the time the disorder is passed as a result of the random mutation of genetics occurring in both girls and boy fetuses.  Girls will become carriers and the male will be directly affected by the disease.

 

To explain specifically how haemophilia is passed to offspring. It helps to summarize the basic facts on how parents create either a girl or boy.  The maternal contribution to a child is one of her two X chromosomes.  The paternal contribution is one of either the X or the Y chromosome. When the paternal contribution is an X chromosome – the outcome is a girl. If the contribution is a Y chromosome – the outcome is a boy.

 

When the haemophilia is inherited, the genetic disorder is carried in the X chromosome. Considering that women have two X chromosomes and men are limited to one X chromosome, usually women are carriers of the disease, while the genetic disorder is usually experienced with obvious symptoms in men. This is because in women, even if one of her two X chromosomes is impacted, she will have a non impacted X chromosome that will generally balance the issue with the other. A male with the genetic cell will have it on his single X chromosome without another X chromosome to balance the effect. As a result – it is far more common for males to experience the genetic disorder than females.

 

A maternal carrier has a 50% chance of passing the X-chromosome with the mutation to a daughter, while an affected father will always pass on the affected gene to a daughter. A son cannot inherit the defective gene from his father.

 

Carrier Mother Genetics

 


 

 

In the image it shows that the mom carries the disease in her genes and if the family has four kids, two of the four kids will be affected. One of the boys will be fully affected and one of girls will be a carrier of the disease. 

 

 There are several types of hemophilia:

 

·         Type 1 and 2 are Hemophilia A. Haemophilia B is caused by  issues with “Factor IX” 

·       The third type, haemophilia C is not linked to issues with the X chromosome

 

      

 

According to the Canadian Haemophilia Society, Hemophilia was first described in ancient times in two different ways.  An doctor in the 12th century described a family where boys died from bleeding after small injuries. Jewish writings in the 2nd century suggested that male children were not required to be circumcised, if two male children in their families had already died from the same action.  The word hemophilia appears in a description in 1828 at the University of Zurich in 1828.

 

Symptoms experienced by people who have the genetic disorder include uncontrollable bleeding. For example, you get a paper cut and usually after a while it stops bleeding. For people with this is disorder the blood does not clot and does not stop.  Another example is that if someone were to hit you with something you would have major bruising. If you bumped a knee or arm, the blood will clot in the joints of it and start to swell.

 

It was originally believed that the cause of the uncontrollable bleeding was that the vessels of a victim were more fragile than normal.   In 1937, medical researchers found that they could fix the clotting problem by adding contents from plasma into the blood.  In 1952, the discover of two separate genetic disorders called hemophilia A and B were identified.   Many methods of treating the symptoms of the disease occurred in the 20th century leading to advanced treatments in the 1970s that allowed people with the genetic disorder to lead normal lives. 

 

One issue surrounding this genetic disorder was the bad blood products resulting in deadly diseases such as hepatitis C and HIV be passed to haemophilics through blood treatment therapy. This resulted in improved testing of blood donors beginning in the 1990s.

 

Haemophilia is sometimes called the “Royal Disease”. This is because Queen Victoria of England was a female carrier of the gene and passed it to many of her relatives throughout the royal families in Europe. The following shows how many of her relatives were impacted.

 


 

 

The Duke of Albany died at age 31 after a slip and fall and lost too much blood.  Another famous family impacted by Haemophilia was the Romanovs and the last royal family of Russia. Their youngest child Prince Alexei of Russia had hemophilia contributing to the issues his family was experiencing in Russia. He did not die from haemophilia but at the age of 13 he was murdered with his family.

 


 

 

Gene Therapy is when defective genes are replaced with a healthy version to help you protect yourself from disease. Gene therapy is based on altering or cloning the DNA of a healthy gene. Gene Therapy is starting to be used to fix this disease.  According to the New York Times in December 2011, researchers in Britain have “successfully treated six patients suffering from the blood-clotting disease known as haemophilia by injecting them with the correct form of a defective gene, a landmark achievement in the troubled field of gene therapy”

 

More typical hemophilia treatment depends on the severity of the symptoms of the person with the disorder.

  1.  On demand, for mild haemophilia, providing treatment to stop bleeding when it occurs. Side effects for this form of treatment include headache, stomach pain and nausea  
  2. Preventative treatment - for more severe cases - medication to prevent bleeding episodes, and complications, including joint and/or muscle damage. Side effects of this treatment are an itchy skin rash and redness and soreness at the site of the injection.

 

 

 

Stop at 1:11 

 

 

http://www.hemophilia-information.com/hemophilia-genetics.html

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

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

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

http://www.hemophilia.ca

http://sciencecases.lib.buffalo.edu/cs/files/hemo.pdf

http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/Q/Queen_Victoria.html

http://www.loc.gov/pictures/item/2003679744/

http://www.medicalnewstoday.com/info/hemophilia/treatment-for-hemophilia.php

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

http://www.nhs.uk/Conditions/Haemophilia/Pages/Treatment.aspx

 

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