The current state of Hemophilia

Hemophilia affects 1 in 5,000 male births and about 400 babies are born with hemophilia each year. It is estimated that about 17,000 Americans have Hemophilia. Hemophilia is slightly more common amongst Caucasians in comparison to other races as demonstrated by Soucie et al. (1998) study; “the prevalence by race/ethnicity was 13.2 cases per 100,000 white, 11.0% among African American, and 11.5% among Hispanic males.” 

The average life expectancy of a male with Hemophilia is approximately 10 years shorter than an unaffected male. In comparison, the average life expectancy of a male with Hemophilia in the 1980's was 50-60 years. The biggest threat to those with Hemophilia is HIV/AIDS acquired by being treated with contaminated blood products, followed by hepatitis infections and soft tissue hemorrhage which obstruct air and blood flow. Additionally, some hemophiliacs develop an immune response called inhibitors against the replacement coagulation factors, which thus require the individual to receive a greater amount of factor or an alternative non human factor, such as pig coagulation factor.

At the moment Hemophilia treatment is very expensive. Cost for annual treatment can range from $60,000, to as much as $1,000,000. The common method of treatment for Hemophilia is the prophylactic treatment plan. This plan requires an intravenous(IV) infusion  3x a week and cost up to $3000 per treatment. Cost can further be complicated due to patients creating an immune tolerance to the treatment and forming inhibitors. 

References:

Hemophilia Overview eMedicine from webMD. Dimitrios P Agaliotis, MD, PhD, FACP, Robert A Zaiden, MD, Fellow, and Saduman Ozturk, PA-C. Updated: 24 November 2009.

"Hemophilia Medical Coverage." Homecare for the Cure. N.p., 2013. Web. 06 Aug. 2014.

Soucie, J. M., Evatt, B., Jackson, D., Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. Am. J. Hemat. 59: 288-294, 1998

History behind Hemophilia

Hemophilia was a very common disorder amongst the royal families of Europe during the 19th and 20th century due to the abundance of arranged marriages.  Hemophilia was even called “the royal disease due to its prevalence in the royal families. Here is an interesting video that highlights the dilemma faced by the royal families in their attempt at keeping the blood royal.

References:

"Haemophilia and Porphyria - Royal Diseases from Tainted Blood." YouTube. YouTube, n.d. Web. 02 Aug. 2014.

How is Hemophilia treated?

There is no current way to prevent hemophilia from manifesting in a person, as it is an inherited disease. Gene therapy may be viable in the future, but at the moment it is still a very experimental and unproven treatment.  Hypothetically, a person who is a know carrier of the hemophilia gene could terminate their pregnancy after screening their unborn child for the disorder.

The most popular method of treating Hemophiliacs is replacement therapy. For replacement therapy, depending on which Hemophilia the individual has, A or B, a clotting factor is infused in the vein – to substitute for the missing or low factor in the person.  Gene therapy is not an option in humans yet but positive results have been obtained in mice VandenDriessche et al. (1999).

Individuals can also do preventative exercise to increase flexibility, and strengthen their joints and muscles to curtail any effects of damaging bleeding that could occur.

Here is a video which showing the ease of living with and treating Hemophilia that modern Hemophiliacs possess. The key to living with Hemophilia is risk management and being vigilant of what is going on with an individuals body. 

References:

"Skylar: Hemophilia Treatment." YouTube. Dartmouth-Hitchcock, 28 June 2011. Web. 07 Aug. 2014.

VandenDriessche, T., Vanslembrouck, V., Goovaerts, I., Zwinnen, H., Vanderhaeghen, M.-L., Collen, D., Chuah, M. K. L. Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice. Proc. Nat. Acad. Sci. 96: 10379-10384, (1999)