Hemophilia Is Not One, but Research Paper

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Occurrence of inherited hemophilia is slightly more likely in Caucasians (1.3%) as opposed to African-Americans (1.1%) and Hispanic (1.2%). Asian populations appear to inherit the gene far less likely, about 1/4 of that of Caucasians. However, modern demographics result in marriage between ethnic types far greater than previous, and statistics show a blending to about 1% of most populations (Soucie, et.al., 1998.)

Abnormality -- as a genetic occurrence, hemophilia infects about 1 in 5,000 male births, but carried in another 5,000 female births. The disease is recessive in females (carried on X-chromosome). Thus, a carrier female has a 50% chance of passing on the defective X chromosome to her daughter, while a male who is affected will always pass on that defect to progeny.

Screening/Testing -- Genetic testing based on family history is the primary mechanism for discovering hemophilia, but certain other tests help quantify the assurance:

Pronounced bleeding at circumcision or bruising at childbirth.

Severe bruising that does not heal well during childhood.

Blood tests for clotting.

aPTT (active partial thromboplastic time) measures clotting, and will be prolonged in those positive for hemophilia (Agaliotis).

Treatments for Disease -- at present, there is no actual treatment for the disease, just a regimen of treatments for the results (bleeding and bruising). There are some treatments that a sufferer can use without medical supervision, though:

Avoid aspirin and NSAID's -- they interfere with clotting.

Drink excess fluids to dilute blood in urine and flush kidneys.

Immediately ice and split bruised joints, this will prevent more serious consequences until seen by a medical professional.

Some herbal remedies are purported to strengthen blood vessels have been reported, but not clinically supported.

Treatments that are somewhat effective but must be administered under the supervision of a doctor:

Factor replacement therapy can be used to keep a higher level of clotting factors constantly available in the bloodstream.

Octostim (SSAVP) is used to temporarily increase levels of Factor 8 in blood.

Amicar and Cyklopron, Aminocaproric acid and tanexamic acid both slow down the destruction of clots, and are particularly useful in dental treatments for oral bleeding.

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Purified Factors can be given intravenously

Essentially, though, hemophiliacs should avoid strong contact sports (football, rugby, wrestling), and limit their exposure to bruising to the best of their ability. It is important to encourage sufferers to strengthen their joints through specific exercises, and to avoid other situations that might result in extra-contact (motorcycles, etc.) ("How to deal with Hemophilia," 2010).

Conclusions -- the future of hemophilia may not be as grim as one would think. Gene therapy, for instance, is one of the most likely ways to "repair" any damage in the body. Essentially, this would replace the defective gene with a healthy gene through the use of a benign virus. This treatment has proven to be marginally successful in lab tests, but has not gone as far as human trials yet. If it does work, though, the "cure" rate, again, depending on the type of hemophilia, could soar over 82% ("Hemophilia Research," 2010; National Institute of Health, 2009).

REFERENCES

Agaliotis, D., et.al. (2009). "Hemophilia -- Overview." EMedicine. Cited in:

http://emedicine.medscape.com/article/210104-overview

Handin, R., et.al., eds. (2003). Blood Principles and Practice of Hemotology."

Thomas Stossel.

"Hemophilia Information." (2006). National Hemophilia Foundation. Cited in:

http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding

"Hemophilia Research." (2010). HealthTree. Cited in:

http://www.healthtree.com/articles/hemophilia/research.php

"How to Deal with Hemophilia." (2010). KidsHealth. Cited in:

http://kidshealth.org/kid/health_problems/blood/hemophilia.html

Mayo Clinic. (2010). "Complications from Hemophilia." MayoClinic.Com.

Cited in:

http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION=complications

National Institute of Health. (2009). Research on Complications of Hemophilia. Cited in:

http://www.nhlbi.nih.gov/health/prof/blood/other/hemophilia/hemophil.htm

Potts, D.M. (1999). Queen Victoria's Gene. Sutton.

Project Posner. (1995). Rhone-Poulence Rorer Inc. -- U.S. Court of Appeals, 7th District.

Cited in: http://www.projectposner.org/case/1995/51F3d1293

Soucie, M., et.al. (1998). "Occurance of Hemophilia in the United States." American

Jounral of Hematology. 59 (1): 288-94. Cited in:

http://nitro.biosci.arizona.edu/courses/EEB320-2007/honors/hemo.pdf

Tondre, R. And C. Lebeque, eds. (2009). Handbook of Hematology Research. Nova Science......

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