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1 Unraveling the Royal Disease; Hemophilia Biology 2 Jemma K. Andersen
2 Table of Content Abstract 3 What is the Cause of Hemophilia 3 Signs and Symptoms of Hemophilia 4 Treatment of Hemophilia 5 Statistics and Prevalence 6 Conclusion 7 Work Cited 8
3 Abstract Genetic disorders and diseases are certain conditions that can arise due to mutations in an individual's genetic material. These disorders can be inherited from one or both parents that carry genes causing the disease/disorder or can be spontaneously developed over time. With the extensive ways in which genes are altered and mutated, disorders also manifest in multiple diverse ways later going on to affect various aspects of the individual's health. As the field of genetics advances, as well as technology and medicine, the interconnections between genes and diseases/disorders are unraveling, allowing further advanced insights into diagnosis, treatment, and in some cases, prevention. It is important to understand the complexities of genetic disorders not just inside the medical profession or educational research, but for normal citizens of our society. Awareness of genetic issues allows people to make informed decisions, spread global awareness, and defines the structure for effective healthcare approaches and understanding. This ultimately improves the lives of individuals and families affected by these genetic conditions. What is the Cause of Hemophilia Although genetic diseases are vastly divergent within our population, this research paper will focus specifically on hemophilia, also known as the ‘royal disease’. Hemophilia is a disorder affecting the circulatory system. It is a genetic hemorrhagic disorder in which an affected individual is unable to clot blood. Typically, when a person cuts themselves, their body attempts to protect itself by automatically blocking the cut through certain proteins. However, people with hemophilia lack that ability. When a normal blood vessel is punctured, platelets and the proteins known as clotting factors come together to essentially clot the wound to slow down the bleeding, ultimately stopping it. In a hemophilic individual, when the blood vessel is punctured, it results in excessive bleeding because of the lack of the clotting factors and platelets. This x- linked recessive disorder causes a deficiency in a specific gene
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4 responsible for producing the vital clotting factors required for blood clot formation, resulting in excessive and prolonged bleeding in individuals affected by the condition. There are two main types of hemophilia; hemophilia A and hemophilia B. Hemophilia A is a result of reduced levels of factor VIII, whereas hemophilia B is a result of reduced levels of factor IX. While having similar characteristics and pattern of inheritance, research shows that hemophilia A may be more severe than hemophilia B. As mentioned earlier, hemophilia is an X-linked recessive trait. For a child to possess the hemophilia disorder, only one parent must carry, or be affected by the trait. For instance, as seen in the diagram, when a female who carries the hemophilia trait, reproduces with a male who does not have the trait, they have a 25% chance of having a daughter who carries the disorder, a 25% chance of having an unaffected son, a 25% chance of having an affected son, and a 25% chance of having an unaffected daughter. As hemophilia spreads without awareness an increasing number of individuals are unknowingly affected by this genetic disorder and thus are more likely to pass it on to their children without proper care and consultation. Signs and Symptoms of Hemophilia Unlike many other genetic disorders, hemophilia is not typically detected at birth. Hemophilia can be detected through specific blood tests or when the affected individual injures themselves and bleeds. The signs and symptoms of hemophilia can vary heavily based on one's clotting-factor level. If the deficiency is mild, then bleeding may occur primarily in response to surgery or injury. However, if the deficiency is severe, bleeding can happen spontaneously and without any apparent cause, making the condition hard to predict and prevent. General signs and
5 symptoms mostly revolve around prolonged and excessive bleeding internally and externally. Common indicators of the disorder include but are not limited to; frequent and severe bruising, bleeding of the joints (causing pain and swelling of the joints), extreme bleeding from cuts, injuries, after surgery, blood in urine and stool, and frequent nosebleeds. An uncommon and rare situation worth mentioning is that people with severe hemophilia can experience “bleeding into the brain” by hitting or bumping their heads against an object. Some of the signs and symptoms of this may include seizures, nausea and vomiting, continuous headaches, and even clumsiness. Hemophilia may cause chronic damage to joints, particularly in weight-bearing areas, such as the knees, hips, and ankles. If the disorder is not appropriately addressed, recurrent bleeding can lead to long-lasting complications. Identifying and diagnosing the disorder early on and seeking the proper treatment can play a crucial role in preventing long term damage and instead promote a better quality of life for individuals impacted by this condition. Treatment of Hemophilia
6 There are a few ways through which hemophilia can be treated and controlled. One of the main treatments is replacement therapy. Replacement therapy is treatment that can be done from home or even the hospital. It is when affected individuals who lack the clotting proteins, such as clotting factor VIII and clotting factor IX, receive injections of those missing clotting factor concentrations through the veins. This form of therapy helps to treat excessive bleeding that hemophilic patients normally have and helps to prevent the complications that arise from the disorder such as bleeding and swollen joints, and easy bruises. Another common form of treatment for more severe hemophilia cases is prophylaxis treatment. This treatment is done long term and is also done through infusions of clotting factors regularly. The main goal behind having regular and scheduled infusions is to prevent bleeding episodes in the first place rather than waiting for it to occur to register the treatment. This treatment aims to maintain a constant level of clotting factors within the body, which reduces the risks associated with hemophilia such as spontaneous bleeding, and joint pain. Statistics and Prevalence To gain insight into the rarity of hemophilia, there are various research backed statistics that describe the prevalence of this genetic disorder. Though both Hemophilia A and B are uncommon, Hemophilia A is the most common of the two. As mentioned before, Hemophilia A is caused by a deficiency in clotting factor VIII. In Canada, studies indicate that Hemophilia A occurs in 1 in every 10 000 people in the country. On the other hand, Hemophilia B, caused by a deficiency in clotting factor IX, is the rarer case between the two forms. It affects 1 in 50 000
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7 Canadians. Taking into consideration the statistics and research of hemophilia it can be concluded that there are far-reaching consequences in our population going forward. Knowing this information and gaining awareness can further increase solutions to help those affected and further improve the lives of those living with hemophilia. Acknowledging the mass impact and variability in different regions, healthcare professionals as well as the average concerned citizen can take steps toward inclusivity and more efficient methods of treatments. Conclusion The complex web of human genetic disorders and diseases goes beyond the fact that they are just mutations of genetic material; it greatly impacts the lives of those affected. The focus of this research paper on hemophilia exemplifies the link between one's genetics and health. Termed the "royal disease," hemophilia disrupts the circulatory system by impeding the clotting of blood, leading to excessive bleeding. Although hemophilia presents itself as an X-linked recessive disorder, its persistence can be partially controlled with proper healthcare solutions. With a better understanding of underlying genetic complications, such as hemophilia, swift action can be taken by society to manage their disorders and, in the long run, prevent long-term and life-threatening effects.
8 Work Cited Blanchette, V., Breakey, V. R., Carcao, M., Poon, M., & Rivard, G. (n.d.). The Role of Prophylaxis. Canadian Hemophilia Society. https://www.hemophilia.ca/files/Chapter%2006.pdf Cleveland Clinic. (2022, November 14). What is Hemophilia?. https://my.clevelandclinic.org/health/diseases/14083-hemophilia Canadian Hemophilia Society. (n.d.). Hemophilia A and B. https://www.hemophilia.ca/hemophilia-a-and-b/ Centers for Disease Control and Prevention. (2023, July 12). How Hemophilia is Inherited. https://www.cdc.gov/ncbddd/hemophilia/inheritance-pattern.html#:~:text=The%20mutation %20causes%20the%20body,a%20parent%20to%20a%20child . Centers for Disease Control and Prevention. (2023, July 12). Treatment of Hemophilia. https://www.cdc.gov/ncbddd/hemophilia/treatment.html Centers for Disease Control and Prevention. (2023, July 12). What is Hemophilia?. https://www.cdc.gov/ncbddd/hemophilia/facts.html#:~:text=Hemophilia%20is%20caused%20by %20a,located%20on%20the%20X%20chromosome . Franchini, M., & Mannucci, P. M. (2018). Haemophilia B is clinically less severe than haemophilia A: further evidence. Blood transfusion = Trasfusione del sangue , 16 (2), 121–122. https://doi.org/10.2450/2016.0158-16 Haelle, T., & Sinha, S. (2022, July 11). Complications of Hemophilia A. Everyday Health. https://www.everydayhealth.com/hemophilia/complications/
9 Hematology-Oncology Associates of CNY. (n.d.). How is Hemophilia treated?: Treatment with Replacement Therapy. https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/how-hemophilia- treated Healthwise Staff. (2022, September 8). Clotting Factor Replacement for Hemophilia. https://myhealth.alberta.ca/Health/Pages/conditions.aspx?hwid=hw190139#:~:text=Hemophilia %20can%20be%20treated%20by,help%20blood%20to%20clot%20normally . Indiana Hemophilia & Thrombosis Center. (n.d.). Avoid Joint Damage with Necessary Treatment. https://www.ihtc.org/hemophilia-joint-bleeds#:~:text=Joint%20bleeds%20are%20the %20main,condition%20known%20as%20hemophilic%20arthropathy . Mayo Clinic. (2021, October 7). Hemophilia. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327 MedlinePlus. (2022, January 25). Hemophilia A. https://medlineplus.gov/ency/article/000538.htm#:~:text=Hemophilia%20A%20is%20a %20hereditary,clot%20properly%20to%20control%20bleeding .
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