The most dangerous and, to some extent, unavoidable diseases are genetic diseases. Parents combine and transmit to a child that genetic code that sometimes can be damaged or wrong. Huether & McCance (2012) call this phenomenon “heredity at molecular level” (p. 35) and explain that the main information regarding the development of the human body is written in his or her DNA. It stands for the genetic code that is responsible for every single system in an organism. Unfortunately, the majority of the genetic disorders cannot be cured.
Description of a patient scenario involving hemophilia and genetics
Hemophilia is a blood disorder that is genetic and thus usually inherited. There is a specific gene that can be transmitted from a parent to a child that can cause this disease. There is no cure that can heal a person with hemophilia, so he or, more rarely, she will have it for life. The main threat that the disease has is that a person may die as a result of excessive blood loss. It happens because blood has poor ability to clot. A patient often has wounds and cuts that continue to bleed for a long time as well as inner bleedings that create large bruises and can be very dangerous. Among other signs of hemophilia are “large bruises, bleeding into muscles and joints, spontaneous bleeding and bleeding for a long time after a cut or surgery” (“Introduction to Haemophilia,” n.d., p. 3).
Impact of genetics on hemophilia
The disease is genetic, that is why this is mostly the main factor that influences its manifestation. It is worth noting, that females suffer from this disease more rarely than males, but they most often are carriers of hemophilia gene. For example, if a father does not have hemophilia gene, but mother does, their son has 50% possibility of getting the disease. However, their daughter has a 50% chance of becoming a carrier of the hemophilia gene. If the situation is the opposite, where a man has a disease, while a woman does not carry the deficit gene, their sons have zero chance of being sick. However, their daughters will definitely be carriers of the disease. If both parents do not have the hemophilia gene in their code, their children are free from the risk of getting the disease (“How Hemophilia Is Inherited,” n.d.).
The clotting mechanism of the blood requires some proteins that are also known as clotting factors. People who are sick with hemophilia suffer from the lack of these clotting factors. This means that they usually bleed longer than others whose factors level is normal. At the same time, the speed of blood flow is not affected by this disease. Both the healthy and the sick bleed with the same amount of blood per second. The main danger is that sick people often have internal bleeding that occur into the muscles or joints. This blood may damage the knee, ankle or elbow joint, if such bleedings happen often and are not properly treated. One in 10, 000 people has this disease, but among male population this rate is 1 in 5, 000. There are two types of the disease: Hemophilia A and Hemophilia IX (Christmas disease). Special tests can distinguish between those types as they have similar symptoms. The main difference is in what kind of clotting factor is missing (“Introduction to Haemophilia,” n.d.).
Pathophysiology of the associated alterations
Therefore, the disease is caused by deficiency of the three mechanisms that should turn on in order to ensure blood clotting. Firstly, the blood vessel regulates the amount of blood that is lost. Then a special plug is formed to prevent bleeding at the site of injury. Finally, coagulation starts. In the case of hemophilia, the clotting mechanism does not work properly, because there are proteins missing for coagulation process. It is required for the plug to be stabilized and to ensure that the vessel is being healed. The coagulation process depends on 13 proteins and the lack or deficiency of any of them leads to a severe problem with the entire function. Therefore, the plug created by the platelet will not be stabilized. The bleeding will continue because it is unstable and cannot prevent further loss of blood (“Haemophilia: Pathophysiology and Management, 2003; McPhee & Hammer, 2012).
References
Haemophilia: Pathophysiology and Management. (2003). Nursing Times. Retrieved from http://www.nursingtimes.net/clinical-subjects/haematology/haemophilia-pathophysiology-and-management/205072.fullarticle
How Hemophilia Is Inherited.(n.d.). Centers for Disease Control and Prevention. Retrieved from http://www.cdc.gov/ncbddd/hemophilia/inheritance-pattern.html
Huether, S.E., & McCance, K. L. (2012). Understanding Pathophysiology (Laureate custom ed.) St. Louis, MO: Mosby.
Introduction to Haemophilia. (n.d.). Irish Haemophilia Society. Retrieved from https://www.haemophilia.ie/uploaded/files/Introduction%20to%20Haemophilia(1).pdf
McPhee, S. J., & Hammer, G. D. (2012). Pathophysiology of Disease: An Introduction to Clinical Medicine (Laureate Education, Inc., custom ed.). New York, NY: McGraw-Hill Medical.
