Hemophilia is a health disorder which hampers the ease of blood clotting, because the condition makes blood coagulation to take longer than usual. This condition may result in internal bleeding following a fall or injury, resulting in damages to body organs, muscles and joints (Callaghan et al., 2018). The most common types of hemophilia are hemophilia A and hemophilia B. Hemophilia is an X-linked recessive disorder, caused by gene mutation in the X chromosome that results in lack of some clotting factors in the offspring. For instance, hemophilia A results from lack of protein VIII (eight) while hemophilia B results from lack of protein IX (nine). Lack of these clotting factors results in excessive bleeding.
Inheritance of this trait is dependent on whether or not the mother is a carrier or, if the father has the trait. For a case where the mother is a carrier and the father does not have the traits; the sons have 50/50 chances of inheriting the trait while the daughters also have 50/50 chances being carriers. For a case of a normal mother and a father with the trait; all sons cannot inherit the trait while all daughters will become carriers of the trait. Symptoms of the condition include excessive bleeding and easy bruising, occasional nosebleeds and internal bleeding that may be observed by having blood in the urine or stool. Swelling may occur at the joints following internal bleeding.
Delegate your assignment to our experts and they will do the rest.
Prevalence: Hemophilia is more common in male as compared to female individuals. Its prevalence in men is about 2 in 10,000 men. A study showed that about 4899 men in the US are newly identified to have hemophilic traits every year (Mazepa et al., 2016). Genetic testing for hemophilia includes carriers testing to find out if the female children in the family are carriers (de Brasi et al., 2014). The tests may include testing for the clotting factor VIII and IX for hemophilia A and B. This is done to determine the genetic disorder causing variant. However, these genetic tests have been challenged by a number of ethical issues surrounding lack of access to proper care and failure to implement adequate technological innovations. It is true that most states have not given hemophilia the priority it deserves. Following heavy burdens of sickness and scarcity of resources especially among orphans, provision of effective treatment to all patients is a major challenge. Nonetheless, a combined effort may be effectively used to provide appropriate interventions to combat this defect among the orphans and the less fortunate.
References
Callaghan, M. U., Sidonio, R., & Pipe, S. W. (2018). Novel therapeutics for hemophilia and other bleeding disorders. Blood , 132 (1), 23–30. https://doi.org/10.1182/blood-2017-09-743385
de Brasi, C., El-Maarri, O., Perry, D. J., Oldenburg, J., Pezeshkpoor, B., & Goodeve, A. (2014). Genetic testing in bleeding disorders. Haemophilia : The Official Journal of the World Federation of Hemophilia , 20 Suppl 4 , 54–58. https://doi.org/10.1111/hae.12409
Mazepa, M. A., Monahan, P. E., Baker, J. R., Riske, B. K., & Soucie, J. M. (2016). Men with severe hemophilia in the United States: birth cohort analysis of a large national database. Blood , 127 (24), 3073–3081. https://doi.org/10.1182/blood-2015-10-675140
