Hemophilia is a less prevalent disorder among individuals. In the past, I have witnessed individuals who excessively bleed whenever they sustain injuries. Medical reports indicated the insufficiency of clotting factors in the body. Notably, the patients suffered from hemophilia. The knowledge of genetic diseases and genes is appropriate for analyzing the disorder. Pathophysiology is essential to study this abnormal condition. It is more practical to provide a patient scenario for the disorder to illustrate the nature of the infection. Also, the changes or alterations related to the cellular function in the disorder pathophysiology is critical.
A patient with the hemophilic condition can be considered to analyze the inheritance of the disorder. In this case, a person with hemophilic is diagnosed to determine the presence of the genes disorder. In most cases, it is found that patients with the disease have a family history of this condition (Hog.org, 2019). I, therefore, assert that the disorder is inheritable for the parents to their children. Hence, there is a high probability for hemophilic parents to bear hemophilic children.
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Genetics has a significant impact on hemophilia. Notably, the hemophilic condition is associated with a gene on the X-chromosome. Females are known to have two X chromosomes, whereas males have an X and Y chromosome. It confirms why hemophilia is prevalent in boys than in girls (Mishra, 2019). The symptoms of hemophilia are spontaneous nose bleeding, excess bleeding from injuries. It signifies that the patients have weak blood clotting mechanisms. Someone would wonder why patients are diagnosed with hemophilia but don't experience the hemophilic symptoms. The reason is that most of them are just carriers of the disorder. Notably, X- linked genes on the females are recessive ( Huether et al., 2017) . Therefore, I meant to understand that hemophilia is inheritable.
Pathophysiology is essential to study this abnormal condition. In essence, is that we can understand the cause of the abnormalities leading to the disorder. Remarkably, the blood clotting system is spontaneous and effective to prevent excess bleeding. However, the failure to perform this is caused by the absence of the proteins responsible for blood clotting. The insufficiency in some blood clotting factors leads to the disorder (Barmore et al., 2091). Notably, the deformities occur on the platelets responsible for blood clotting.
References
Barmore, W., and Burns, B. (2019). Biochemistry, Clotting Factors. Stat Pearls [Internet]. Treasure Island (FL): Stat Pearls Publishing; Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK507850/
Horg. Com (2019). The Hemophilia, Von Willebrand Disease, and Platelet Disorders Handbook. 8607 Roberts Drive, Suite 150 Sandy Springs. Retrieved from https://www.hog.org/handbook/
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th Ed.). St. Louis, MO: Mosby. Retrieved from http://stikespanritahusada.ac.id/wp-content/uploads/2017/04/Sue-E.-Huether-Kathryn-L.-McCance-Study-Guide-for-Understanding-Pathophysiology-Mosby-2012.pdf
Mishra K. L. (2019). Hereditary bleeding disorder, factor ix deficiency in females: a case series. Cases Journal , 2 , 8940. Doi: 10.4076/1757-1626-2-8940. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827124/
