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Present a Genetic Disease

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Present a Genetic Disease

Category: Research Paper

Subcategory: Biochemistry

Level: Academic

Pages: 1

Words: 275

Present a Genetic Disease
Haemophilia is a hereditary genetic disease which impairs the function of blood clotting in the body. Blood clotting often assists in stopping excessive bleeding when a vessel is ruptured. The most common type of the disorder is type A which is found in every 1 in between 5000 to 10000 males. Type B of the disorder is found in 1 of every 20000 to 34000 males (Bowen 128).
Signs and symptoms
Symptoms for the disorder include external and internal bleeding periods, and this depends on the severity of the conditions. Individuals with harsh haemophilia often have frequent bleeds compared to those who have mild haemophilia (Zappa n.p).
Life expectancy
Life expectancy for people suffering from the disorder varies, and this depends on the severity of the disease. Treatment is essential as it aids in prolonging life as most of those who don’t undergo treatment never reach maturity.

Currently there is no cure for haemophilia, but it can be controlled through the infusion of a clotting factor. Factor VIII is recommended for haemophilia A while factor IX in haemophilia B, with factor replacement being isolated from human blood recombinant, serum or both.
The condition is rare and in parts like the US only 18000 people are considered to suffer from the disorder. Every year it is recorded that only 400 born babies are found with the disorder and it only often occurs among more in males as opposed to females.
Current research
The disease is treatable, but with current research it will be cured in the future without any problems. The current research done is geared towards learning the extent of bleeding in patients, designing and implementing interventions that will lead to prevention and delivering promotional messages to individual patients to take charge of their health as a whole.
Effective treatment for the disorder became available in the year 1960, and during this time life expectancy was 11 years. Currently, with the introduction of adequate treatment, patients can live up to ten years shorter when compared to normal males. Haemophilia has had no effective treatment, but due to research that is undergoing researchers are almost getting the cure for the disease.
Bowen, D J. “Haemophilia A and haemophilia B: molecular insights.” Molecular pathology : MP 55.2 (2002) : 127-144. Print.
Zappa, S. et al. “Treatment trends for haemophilia A and haemophilia B in the United States: Results from the 2010 practice patterns survey.” Haemophilia 18.3 (2012): n. pag. Print.

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