Just a Blurb

As I've been researching I've truly been astounded by how normal life can be for hemophiliacs. Except in the most extreme cases, they can live a fulfilling life with some treatments and a modicum of caution. I wasn't really anticipating that. Thinking about what hemophilia is-- the inability to stop bleeding as you should-- and all the possible effects of having it, I've always imagined life to be pretty bleak.
Here are some other unexpected things I've come across:

• In 1986, President Ronald Reagan designated March as Hemophilia Awareness Month
• Read the original proclamation: http://tiny.cc/xwubtw
• The earliest reference to the existence of hemophilia is considered to be a passage in the Talmud, a Jewish holy text, stating that if a woman had two sons die of circumcision the third would not have to undergo the procedure.
• Von Willebrand Disease is the most common bleeding disorder, affecting 1-2% of the population, both male and female equally. 
• The Lone Star Chapter of the National Hemophilia Foundation founded the Bleeding Disorders Legal Information Hotline to help people get information about their rights, health insurance, and issues related to home and school
• The service is free and confidential: http://tiny.cc/suqxtw
• Between 1978 and 1984 approximately 12,000 people-- 90% of severe hemophiliacs and 70% of all hemophiliacs-- in the United States contracted HIV from contaminated blood transfusions. 
• Bad Blood: A Cautionary Tale is a documentary illustrating the effects of this event: www.badblooddocumentary.com
• Medical studies acknowledge that laughter, as a highly contagious emotion, can improve the quality of life for hemophiliacs by reducing stress during a bleed, promoting relaxation, improving sleep, strengthening relationships.

Source: Hemophilia Federation of America http://www.hemophiliafed.org/programs/meetings-events/hemophilia-awareness-month/

Is There A Cure

You might have noticed that a lot of my posts have been at night, and that would be because I only have time for a quick blurb with hours upon agonizing hours of rehearsals and other homework. So without further ado, my nightly blurb.
Is there a cure for hemophilia? Unfortunately, no. The easiest way to get a temporary cure is to inject commercially produced clotting factor concentrates to replenish or replace the missing factor. You can get these from plasma-derived factor concentrates or recombinant factor concentrates. Plasma-derived concentrates come from human plasma, where as recombinant ones are genetically engineered.
Injections can be given when bleeding occurs, but they also can be used preventively. Many people have learned how to self-administer the concentrates at home.
Desmopressin acetate is a drug that mimics a naturally occurring hormone within the body that releases factor viii from where it's stored in bodily tissues. It can be injected or taken nasally and applies to those  with mild to moderate hemophilia who are lacking in factor viii.
Epsilon Amino Caproic Acid can be administered via the vein or mouth and is a chemical that prevents clots from breaking down. It is normally used for bleeding in the mouth, as it inhibits an enzyme in saliva that breaks down clots.
Finally, there is cryoprecipitate. It's the substance that results from thawing out frozen plasma and it is rich in factor viii. However, unlike with plasma-derived factor concentrates, there is no way to kill viruses residing within it. Therefore, it is only used in developing countries.
Really, the most important thing is to pay attention to one's lifestyle. Avoid rough, contact sports and stay cautious. There are various organizations that provide information, care, or support for those with hemophilia and there families, such as:
Centers For Disease Control and Prevention (cdc.gov)
The National Hemophilia Foundation hemophilia.org
Steps For Living stepsforliving.hemophilia.org
Alliance of Genetic Support Groups medhelp.org/geneticalliance

The Royal Disease

In my first post I mentioned that the history of hemophilia is what originally appealed to me, specifically in relation to the Romanov family. However, hemophilia first cropped in royalty with Britain's Queen Victoria. Upon discovering hemophilia (though it was not known as such at the time) in one of her sons, rumors spread of "the curse of the Coburgs". Supposedly dating from the nineteenth century, the "curse" resulted from an envious monk of the Kohary family cursed the Coburg prince and his bride, the princess Antoinette de Kohary. Of course, no such curse existed. It's commonly believed that Queen Victoria either inherited the mutation from her father, or spontaneously acquired it herself. Hemophilia in the Spanish, Russian, German, Prussian royalty can be traced back to Queen Victoria. This PDF breaks down the inheritance of hemophilia in each of the royal families: http://sciencecases.lib.buffalo.edu/cs/files/hemo.pdf, and this video really delves into the details of the royal disease: https://www.youtube.com/watch?v=Ch4rMCAUQT4.

Until Then...

So, part of my assignment was to interview some sort of authority on hemophilia. A doctor, a person with hemophilia, a person who knows someone with hemophilia--it doesn't really matter. I was just supposed to touch on the more personal aspect of having the disease. I sent out e-mails requesting interviews about a week and a half ago, and I have yet to hear a response. Just in case I never actually get one, I'm going to include the links for some really fantastic blogs about hemophilia. They do a great job of making people aware of the day-to-day reality of having hemophilia. Enjoy!

Hemophilia Is For Girls

Sweet Affliction- I absolutely love this one. It has almost anything you could possibly imagine.

Voices of Hemophilia- Not a blog, but has great stories from hemophiliacs; collected by the New York Times

Hemo.....What?

Hemophilia is a genetically inherited disease caused by mutations in Factors VIII or IX, proteins that determine the blood's ability to clot. Factor VIII is considered the antihemophilic factor because it promotes proper blood clotting. People with Hemophilia A are those who produce too little or no Factor VIII, and they make up about 85% of the hemophilic population. Factor VIII is a relatively large protein, so mutations occur in the form of deletions (a segment of DNA is removed), point mutations (a single base pair in a DNA sequence, or only one of the "rungs of the ladder", is changed, inserted, or deleted), or inversions where part of the DNA has flipped backwards.

Factor IX is also known as the Christmas factor and mutations cause Hemophilia B. Mutations of this protein are usually deletion or point mutations.

 In most cases, hemophilia is inherited by parent who either expresses or carries the mutation. However, there is a rare form of hemophilia known as Acquired Hemophilia. This occurs when a body begins to make specialized proteins called autoantibodies. They then mistakenly attack the coagulation factors. Usually Factor VIII is targeted, however Factors V and IX are also susceptible. The production of autoantibodies is associated with immune system disorders, viral infectious cancer, even allergic reactions to a drug or pregnancy. Basically, anytime the body is weakened. What causes the autoantibodies to attack the coagulation factors is unknown.

The pictures above show three different ways hemophilia can be inherited. You might have noticed that in none of the outcomes does a daughter express hemophilia. This is because hemophilia is transmitted on the X chromosome. In the case of a daughter, she would inherit one of her X chromosomes from her mother and one from her father. In most cases, the healthy chromosome, the one not carrying hemophilia, would negate the mutation of the unhealthy one. Men express the hemophilic gene because they only have one X chromosome. The absence of a healthy chromosome allows the gene to be expressed.

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Despite all that, women can inherit hemophilia. A third form of hemophilia known as Hemophilia C is caused by a deficiency in Factor XI. It is an autosomal dominant version of the disease, meaning a child needs only one abnormal gene to express the trait.

Wow, I just scrolled up through my post and realized how long and dry it sounds. I hope I didn't lose you along the way! Not all of my posts will be like this, but I do have to fulfill some requirements.

Sources Specific to This Post:

"Acquired Hemophilia." U.S. Department of Health and Human Services/Office of Rare Diseases Research, n.d. Web. 11 Feb. 2014. 

http://rarediseases.info.nih.gov/gard/10350/acquired-hemophilia/resources/1

"Factor XI Deficiency." The National Hemophilia Foundation, n.d. Web. 11 Feb. 2014. 

http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=189&contentid=54

"Hemophilia." ASGCT. American Society of Cell and Gene Therapy, n.d. Web. 11 Feb. 2014

http://www.asgct.org/general-public/educational-resources/gene-therapy-and-cell-therapy-for-diseases/hemophilia

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How Do You Know?

Diagnosis of hemophilia is rather straight forward. As symptoms include excessive bleeding, blood in the urine or black stool,swollen joints, poor or slow clotting cuts and other injuries to blood vessels, it's soon apparent whether someone has hemophilia. Most diagnoses are made during the first few month of life, especially when infants begin teething. After symptoms appear, a blood test will reveal any chromosomal abnormalities that would indicate whether or not a child has hemophilia. 

The abnormal bleeding associated with hemophilia creates unexpected and perhaps more dangerous complications. Joints are especially vulnerable, as continued movement causes wear and tear of ligaments. Excessive bleeding within the joints could cause arthritis or crippling deformities. Bleeding in muscles and tissues puts extreme pressure on the nerves, causing pain and reducing sensation with the potential for permanent nerve damage. Even accidentally biting your tongue could cause swelling that would impair breathing. A slight bump on the head could lead to subdural hematoma.

Though there are different levels of hemophilia ranging from mild to severe, the consequences of what anyone else might determine as an "accident" can be potentially life-endangering. In my next post I'll talk a little bit about treatment, and then I'll delve more into the personal aspects of having hemophilia.

Sources:

"Hemophilia." American Medical Association Complete Medical Encyclopedia. 2003.EBSCOHost. Web. 13 Feb. 2014.

A Bit of Perspective

As I've been researching hemophilia, I've found myself thinking how debilitating it must be to have this disease. You'd go through life with the utmost caution and have to plan everything you do around your disease, something you couldn't possibly have had a say in.

And then I found this video.

It was so awe-inspiring to see these kids, kids my age and younger and older, looking upon their disease as a positive thing, despite all they struggle through every single day.. The mindset of these kids is absolutely beautiful and brilliant, and I hope that some day I will see my world the way they do.

Why Hemophilia?

I was in the fourth grade when I first heard about hemophilia. As a kid I had loved the Fox Family Studios' movie Anastasia. Being the complete and utter nerd that I am, I went to my local library and checked out as many books as I could about the Romanovs. Suffice to say, reality was much different than the image that John Cusack and Meg Ryan presented. What I found most fascinating was the relationship between Rasputin and the royal family, specifically, his relationship with Alexei, who suffered from hemophilia. Even now, ten years later, this story drives my interest in hemophilia and is why I've chosen to research this disorder. The rest of my posts will be more informative, I promise, but the bell is about to ring!