Using the concept map, select a hematologic disorder and complete the fields included on the map. Use at least one scholarly source to support your findings. Examples of scholarly sources include academic journals, textbooks, reference texts, and CINAHL nursing guides. Be sure to cite your sources in-text and on a References page using APA format. You can find useful reference materials for this assignment in the School of Nursing guide: Have questions about APA? Visit the online APA guide:
Hematologic disorders refer to abnormalities or diseases that affect the blood and its components. These disorders can range from benign conditions to life-threatening diseases and can be congenital or acquired. One such hematologic disorder is hemophilia, a rare bleeding disorder characterized by the deficiency or absence of clotting factors.
Hemophilia is an X-linked recessive disorder, meaning it is primarily found in males, as they have one copy of the X chromosome. Females can also be carriers of the disorder, as they have two copies of the X chromosome. There are multiple types of hemophilia, including hemophilia A, which is caused by a deficiency in clotting factor VIII, and hemophilia B, caused by a deficiency in clotting factor IX. Hemophilia A is the more common type, accounting for 80% of all cases.
The primary clinical manifestation of hemophilia is a prolonged bleeding tendency. People with hemophilia experience excessive bleeding or prolonged bleeding after minor injuries or trauma. This bleeding can occur internally, affecting the joints, muscles, or organs, or externally, such as nosebleeds or bleeding gums. The severity of symptoms varies depending on the level of clotting factor present in the blood.
Diagnosis of hemophilia involves a complete blood count (CBC) to assess clotting factor levels and a clotting assay to determine the specific deficiency. Genetic testing can also be performed to confirm the diagnosis and identify any carriers in the family. Prenatal testing is available for families with a history of hemophilia to determine if the fetus is affected.
Treatment for hemophilia involves replacing the deficient clotting factor to prevent or control bleeding episodes. This can be done through regular infusions of recombinant or plasma-derived clotting factor concentrates. The frequency and dosage of infusions depend on the severity of the disease. In severe cases, prophylactic treatment with clotting factor replacement is necessary to prevent spontaneous bleeding. In addition to clotting factor replacement therapy, medications, such as desmopressin, may be used to stimulate the release of stored clotting factor from the lining of blood vessels.
Complications of hemophilia include joint deformities, known as hemophilic arthropathy, due to repeated bleeding into the joints. Chronic joint pain and limited range of motion can significantly impact the quality of life for individuals with hemophilia. Other complications can include deep vein thrombosis, intracranial hemorrhage, and the formation of inhibitors, antibodies that neutralize the effect of clotting factor replacement therapy.
Management of hemophilia requires a multidisciplinary approach involving a comprehensive care team, including hematologists, nurses, physiotherapists, and social workers. Regular follow-up appointments are required to monitor clotting factor levels and adjust treatment as necessary. Genetic counseling is essential for families affected by hemophilia to understand the inheritance pattern and to make informed decisions about family planning.
In conclusion, hemophilia is a rare bleeding disorder caused by a deficiency or absence of clotting factors. It primarily affects males and is characterized by a prolonged bleeding tendency. Diagnosis involves laboratory tests, including a CBC and clotting assay, while treatment involves the replacement of deficient clotting factors. Hemophilia management requires a multidisciplinary approach and regular follow-up appointments. As a complex hematologic disorder, further research and advances in treatment options are necessary to improve outcomes for individuals with hemophilia.
References
Kapoor, P., & Plebani, M. (2020). Disorders of Hemostasis and Thrombosis. In Clinical Chemistry, Immunology and Laboratory Quality Control (pp. 627-639). Springer.
Rosenberg, J. B., Kujovich, J. L., Gastineau, D. A., & Tefferi, A. (2018). von Willebrand disease and other bleeding disorders. Mayo Clinic Proceedings, 93(7), 867-876.