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Please kindly fomate this article and use the references to include intext citations. This is a topic that is very close to my heart. I have lost 4 paternal cousins to sickle cell disease. I am a carrier and so are two of my girls. Sickle cell disease (SCD) results from a mutation in the β-globin gene, resulting in the synthesis of aberrant hemoglobin S (HbS). In hypoxic settings, HbS undergoes polymerization, resulting in the deformation of red blood cells (RBCs) into a sickle morphology. Because they are less flexible and more rigid, sickled cells have a harder time passing through tiny capillaries. Additionally, they are susceptible to hemolysis, which shortens the RBC lifespan from 120 days to 10-20 days. This results in vaso-occlusion, where sickled cells obstruct blood flow, causing ischemia and pain crises. This phenomenon accounts for Marcus’s significant joint pain, chest discomfort, and shortness of breath. Fatigue, pallor, and low hemoglobin (7.1 g/dL) are symptoms of hemolytic anemia, which is caused by the breakdown of red blood cells. Hyperbilirubinemia results from the degradation of red blood cells, leading to raised bilirubin levels, yellowing of the eyes, and increased LDH. The bone marrow responds to anemia by unleashing an increased number of immature red blood cells, which results in an elevated reticulocyte count. A point mutation in the HBB gene located on chromosome 11, wherein glutamic acid is substituted by valine at the sixth position of the β-globin chain. It is probable that Marcus received one HbS allele from his mother, who is a carrier, and one from his father, whose status remains uncertain but is likely to be a carrier or affected as well. SCD impacts the immune system in multiple ways: Functional asplenia: Recurrent infarctions result in splenic injury or atrophy, compromising the capacity to filter microorganisms and mount effective immunological responses. Elevated risk of infection, particularly with encapsulated pathogens such as Streptococcus pneumoniae and Haemophilus influenzae. The continuous process of hemolysis and tissue ischemia sustains a state of inflammation. Hydroxyurea is a disease-modifying agent that enhances the production of fetal hemoglobin (HbF), which serves to dilute HbS, thereby decreasing polymerization and the occurrence of sickling. It lowers the occurrence of vaso-occlusive crises and diminishes white blood cell count, leading to a reduction in inflammation and adhesion to the endothelium. Marcus’s erratic adherence, however, lessens its efficacy and probably contributes to the high frequency of pain episodes and hospital stays. Therefore, immunization, adherence, and prompt treatment of infections are essential elements of therapy. Adherence and health literacy are two topics that should be covered in culturally aware and adolescent-focused APRN education: Explain hydroxyurea’s function in basic, understandable terms. To assist with medicine reminders, use visual aids or smartphone apps. Include family members in care routines, particularly his mother and siblings. Recognize the possible skepticism towards healthcare systems within African American communities. Engage in a thoughtful discussion of natural remedies or traditional beliefs, ensuring to present evidence-based comparisons with respect. Get young people to talk about how having SCD affects school, sports, and social life. Work with a school nurse or counselor to get help with tasks and going to school. Encourage teens and young adults with SCD to join peer support groups. references Elendu, C., Amaechi, D. C., Alakwe-Ojimba, C. E., Elendu, T. C., Elendu, R. C., Ayabazu, C. P., Aina, T. O., Aborisade, O., & Adenikinju, J. S. (2023). Understanding Sickle cell disease: Causes, symptoms, and treatment options. Medicine, 102(38), e35237. https://doi.org/10.1097/MD.0000000000035237 Kavanagh, P. L., Fasipe, T. A., & Wun, T. (2022). Sickle Cell Disease: A Review. JAMA, 328(1), 57-68. https://doi.org/10.1001/jama.2022.10233 Mangla A, Agarwal N, Maruvada S. Sickle Cell Anemia. [Updated 2023 Sep 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482164/ Mangla, A., Agarwal, N., & Maruvada, S. (2023). Sickle Cell Anemia. In StatPearls. StatPearls Publishing. (2008). Sickle cell anemia. In Y. Zhang (Ed.) Encyclopedia of global health (Vol. 4, pp. 1542- 1543). SAGE Publications, Inc., https://doi.org/10.4135/9781412963855.n1085 (2011). Sickle cell disease and the family. In M. Craft-Rosenberg, S. Pehler (Eds.) Encyclopedia of family health (Vol. 2, pp. 964-966). SAGE Publications, Inc., https://doi.org/10.4135/9781412994071.n314
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