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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

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

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