Pathophysiology of Hemophilia

Pathophysiology of Hemophilia
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Pathophysiology of Hemophilia
Introduction
Hemophilia is a hereditary disease manifested by difficulty stopping bleeding due to reduced blood clotting ability (Pipe et al., 2022). This disease is inherited in a sex-linked recessive manner. Hemophilia refers to the pathology of the hemostatic system and is a hereditary X-linked recessive disease caused by a deficiency of factors of the blood coagulation system. However, hemophilia can also be a sporadic disease. It is explained by the fact that the formation of mutations is a continuous process, and some males with hemophilia have a newly mutated factor VIII or factor IX gene or received a newly mutated gene from their mother. In this case, the patient's heredity may not be traced (Pipe et al., 2022).
In most cases, this disease affects males. Hemophilia in females is possible if the father has hemophilia. According to the Centers for Disease Control (CDC), 1 in 5,000 male births have hemophilia in the United States. However, a precise number of patients with hemophilia is unknown (CDC, 2022). This assignment aims to discuss the normal physiology and anatomy of the body, the mechanism of hemophilia, and its prevention and treatment.
Discussion
Normal Anatomy of the Body System
The human circulatory system includes blood, the heart, and blood vessels. The heart is the primary muscular pumping organ which pumps blood toward different body parts and systems (Behl et al., 2020). Anatomically, the heart comprises four chambers, right and left ventricles and right and left atria. The deoxygenated blood is taken by the right atrium and pumped into the right ventricle. Then blood goes into the lungs through the right ventricle, where it becomes oxygenated, and carbon dioxide is released, which is then pumped into the body by the left ventricle (Gupta & Maurya, 2022).
The blood vessels are tube-like structures which carry the bloodstream all over. These consist of arteries, veins, and capillaries. An artery has a thick wall comprising three layers, tunics, whereas veins consist of a thin wall with a comparatively wider lumen. Capillaries are fragile, small structures innervated into the body organs and are not identifiable under standard magnification (Gao et al., 2020).
Blood comprises white blood cells (WBCs), platelets, red blood cells (RBCs), and plasma. Red blood cells, also called erythrocytes, are the most common cells in the blood (Markova et al., 2020). They are responsible for supplying body tissues with oxygen and removing carbon dioxide. White blood cells (leukocytes) function against infections and disease. In addition, platelets, also known as thrombin cells, are small fragments of cells involved in blood clotting. Together, they help stop bleeding by forming a plug in the injured area. Plasma is a pale yellow liquid containing proteins, water, and other substances, including hormones, nutrients, and waste (Yuyen, 2022).
Normal Physiology of the body system
The physiology of the blood system is tightly regulated by a complex system of feedback mechanisms involving hormones, nerves, and other signaling molecules (Goldstein, 2019). These mechanisms help maintain homeostasis in the body, ensuring that the blood system functions properly and can respond to variations in the body's external and internal atmosphere. The primary function of blood is to transport oxygen which is achieved through the binding of oxygen to hemoglobin in red blood cells and the diffusion of carbon dioxide into the plasma (Hess & D'Alessandro, 2022).
The physiology of the blood system involves the coordinated activity of several organs, tissues, and cells to perform the system's various functions. The heart pumps blood throughout the body. It does so by undergoing cycles of contraction (systole) and relaxation (diastole) to propel blood through the chambers and into the blood vessel. The heart's electrical conduction system coordinates the contraction of the heart muscle, ensuring that it pumps blood efficiently and effectively (Peate, 2021).
Blood vessels carry blood all over the body. They are composed of three layers: endothelium: inner layer, smooth muscle: middle layer, and connective tissue: outer layer. The smooth muscle layer can contract and relax to regulate blood flow and pressure. RBCs contain hemoglobin, which binds carbon dioxide and oxygen and is formed in the bone marrow. WBCs are formed in various organs, including the lymph nodes, spleen, and bone marrow. Platelets are also produced in the bone marrow. Blood plasma is involved in maintaining the body's pH balance, transporting ions, and serving as a medium for immune system components (Peate, 2021).
Moreover, the nutrients transported by the blood are used by cells to produce energy and perform other metabolic functions. Blood helps regulate the body's pH level and ion balance by transporting bicarbonate ions, which act as a buffer to neutralize excess acid or base. Platelets and clotting factors in the blood work together to form clots at the injury site, helping to stop bleeding and prevent excessive blood loss (Goldstein, 2019).
Overall, the blood system functions through the interaction of its various components, including the heart, blood vessels, and blood cells. The heart pumps blood through the blood vessels while the blood cells and plasma work together to transport nutrients, gases, and other substances throughout the body and maintain its internal environment (Goldstein, 2019).
Mechanism of Pathology
Anatomically, hemophilia affects the blood vessels, tiny blood vessels in tissues, and the lining of the blood vessels, known as the endothelium (van Vulpen et al., 2021). In normal blood clotting, the endothelium produces substances that promote the formation of blood clots to stop bleeding. However, in individuals with hemophilia, the lack or deficiency of clotting factors impairs the formation of blood clots, leading to bleeding that can be difficult to control.
Physiologically, the deficiency of clotting factors in hemophilia disrupts the cascade of events that leads to forming of a stable blood clot. When the blood vessels are injured, a series of reactions involving clotting factors, platelets, and endothelium occurs, resulting in a blood clot that stops bleeding. In hemophilia, the lack of clotting factors impairs this process, resulting in delayed or inadequate clot formation (Petkovic et al., 2022).
The severity of this condition is dependent on the clotting factor deficiency level. Less than 1% of the normal clotting factor level indicates severe hemophilia and experience spontaneous bleeding into joints and muscles, and prolonged bleeding after an injury. Individuals with moderate hemophilia have 1-5% of normal clotting factor levels and typically experience bleeding after injury or surgery. Individuals with mild hemophilia have 6-50% of normal clotting factor levels and generally experience bleeding only after significant injury or surgery (Pasi et al., 2020).
The pathology of hemophilia involves repeated episodes of bleeding, particularly into joints, muscles, and soft tissues, leading to chronic pain, joint damage, and deformities. The bleeding episodes can also occur internally, such as in the gastrointestinal tract or brain, which can be life-threatening. Over time, repeated bleeding episodes can cause joint damage and arthritis and impair mobility and quality of life (Petkovic et al., 2022).
Prevention
Hemophilia is a genetic disease, and currently, there is no known cure for it. Therefore, it cannot be prevented entirely. However, specific measures may be taken to manage and dec...