Module 9: Discussion ? Must post first. Subscribe A 38-year-old African-American woman was admitted for arthroscopic knee surgery. Her hematocrit was 25%, blood pressure was 140/94 mm Hg, and pulse was 112 beats/minute. She had a history of joint and bone pain, jaundice, and abdominal pain. Due to the presenting symptoms (joint and bone pain, abdominal pain, and jaundice) a diagnosis of Sickle Cell Disease was considered. Provide a brief discussion of the pathophysiology of sickle cell disease and discuss the clinical manifestations and the etiology associated with each manifestation of this disease. Post your initial response by Wednesday at midnight. Respond to one student by Sunday at midnight. Both responses must be a minimum of 150 words, scholarly written, APA formatted, and referenced. A minimum of 2 references are required (other than your text). Refer to grading rubric for online discussion
. Feedback 100 / 100 Thank you for a thorough post Gisselle. View Graded Rubric Start a New Thread Discussion Filter by: All Threads Sort by: Most Recent Activity? Least Recent Activity? Newest Thread? Oldest Thread? Author First Name A-Z? Author First Name Z-A? Author Last Name A-Z? Author Last Name Z-A? Subject A-Z? Subject Z-A Sickle Cell DiseaseSubscribe Tallona Boddy posted Mar 16, 2021 1:37 PM Contains unread posts Sickle cell disease, specifically, is an inherited blood disorder, by both parents. In the U.S., sickle cell disease is part of the newborn screening, via a blood test and can be diagnosed at any time during a person?s lifespan (Centers for Disease, 2020).? Diagnosis of sickle cell disease is completed through blood tests, the hemoglobin electrophoresis, high performance liquid chromatography (HPLC) and deoxyribonucleic acid (DNA) test, (St. Jude Research, n.d.).??A patient may present to their provider with any of the above mentioned symptoms, as well as, other symptoms such as fever, severe unexplained episodes of pain, pale skin or eyes, or signs and symptoms of a stroke.?
The etiology for these manifestations is again due to the shape of the sickle cell.? A fever is due to a damaged spleen from the sickle cells, causing increased infections.? Pale skin or eyes is due to the anemia and poor oxygenation, the sickle cells blocking and sticking to one another in smaller vessels.? Signs and symptoms of a stroke are due to a potential blood clot caused by the sticky red blood cells sticky to one another and occluding a larger vessel (Mayo Clinic, 2020).?Centers for Disease Control and Prevention. (14 December, 2020).?Sickle cell disease.?https://www.cdc.gov/ncbddd/sicklecell/index.htmlMayo Clinic. (30 January, 2020).?Sickle cell anemia.?https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876St. Jude Children?s Research Hospital. (n.d.).?Diagnostic screening for sickle cell disease.?
https://www.stjude.org/treatment/disease/sickle-cell-disease/diagnosing-sickle-cell.htmlless1 UnreadUnread6 ViewsViews 6 1 2 RepliesReplies 2 View profile card for Gisselle Mustiga Last post?March 22 at 12:25 AM?by Gisselle Mustiga ? ? References Sickle cell disease affects a person?s red blood cells, typically, red blood cells are round, sickle cell red blood cells are crescent (moon) shaped and sticky.? The crescent shaped red blood cells have difficulty moving through a person?s blood vessels, compared to traditional round, non-sticky red blood cells.? The crescent shaped red blood cells tend to get stuck in small blood vessels and stick to one another.? Due to the sticky, crescent shape of the red blood cells the patient can experience a number of symptoms. Anemia is often present due to the sickle cells breaking easier and dying within 10-20 days, not meeting the average 120 day lifespan of a red blood cell.? Pain, hand/foot swelling and vision problems are common symptoms due to the sickle cells sticky nature and crescent shape, building up and blocking blood flow in the body (Mayo Clinic, 2020).
Module 9, Eleany YaseinSubscribe Eleany Yasein posted Mar 17, 2021 9:09 PM Contains unread posts Sickle cell disease is autosomal recessive, genetic disorder that affects multisystem in the body (Sedrak & Kondomudi, 2021). It mostly affects African Americans, about 1 in 12 African Americans carry the mutation. This disorder is caused due to a mutation on chromosome 11, there is an amino acid substitution (glutamic acid is changed to Valine) in position 6. This mutation causes the Hemoglobin molecule to change and alter the erythrocyte shape. There is adhesion of the erythrocytes and formation of heterocellular aggregation, leading to vessel occlusion and hypoxia. Moreover, Hemoglobin binds to nitric oxide and releases oxygen, which causes the erythrocytes to sickle.
There is an increased HbS (sickled HbA) formation and activation of inflammatory mediators and free radicals are released, which causes reperfusion injury. Furthermore, there is an increase nitric oxide binding, neutrophil adhesiveness, platelet activation and hypercoagulability (Sedrak & Kondomudi, 2021).ReferencesSundd, P., Gladwin, T. M., & Novelli, M. E. (2018 October 17). Pathophysiology of Sickle Cell Disease.?Annual Review Pathology, 14, 263-292.?doi:?10.1146/annurev-pathmechdis-012418-012838more1 UnreadUnread3 ViewsViews 3 1 1 RepliesReplies 1 View profile card for Aina Oluwo Last post?March 21 at 10:13 PM?by Aina Oluwo Sedrak, A., & Kondamudi, N. (2021, January 22). Sickle Cell Disease.?StatPerarls.?
https://www.ncbi.nlm.nih.gov/books/NBK482384/ Patients with sickle cell disease will present with different rage of clinical manifestations depending on the body system affected and the severity (Sedrak & Kondomudi, 2021). Vaso-occlusive crisis is the most common presentation seen. Microvascular occlusion leads to ischemia, which leads to tissue damage and triggers inflammation process. This activates nociceptors and cause pain. Patient complain of pain in different part of their body, including?their bones, back, chest and abdomen.?Patients can also present with acute chest syndrome, which is caused due to the hypoxia and release of inflammatory mediators.
Symptoms include, fever, cough, chest pain, which can lead to respiration failure (Sedrak & Kondomudi, 2021). Moreover, Sickle cell disease causes intravascular and extravascular hemolysis causing chronic anemia (Sundd et al., 2018). This causes increase in cardiac output, ventricular dilation and cause vascular injury. The endothelial dysfunction and vascular injury cause multiorgan failure. Patients can present with renal dysfunction, hypertension, cerebrovascular accidents, and pulmonary hypertension (Sundd et al., 2018). Module 9: The Hematologic System ? SCDSubscribed Gisselle Mustiga posted Mar 16, 2021 2:11 PM Contains unread posts Sickle cell anemia results from mutation of the b globin gene. It should be noted that the red blood cells containing the abnormal b alleles undergo polymerization and become rigid when exposed to deoxygenated environments.
These rigid red blood cells are often susceptible and liable to hemolysis and also have increased densities. Their weights affect the endothelial walls? blood flow and integrity (Inusa et al., 2019). Hemolysis results in complex activities and events, including the consumption and dysregulation of nitric oxide. It also causes endothelial dysfunction, leading to severe complications, including stroke, priapism, leg ulceration and pulmonary hypertension. Compared to the red blood cell with a half-life of 120 days, sickle RBCs can only exist for a maximum of 20 days due to hemolysis (Huether et al. 2020). Distortion of the normal discoid RBCs into sickle cell results from the formation of long fibers of deoxyhemoglobin S.ReferencesInusa, B. P., Hsu, L. L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K. A., & Atoyebi, W. (2019). Sickle cell disease?genetics, pathophysiology, clinical presentation and treatment.?International Journal of Neonatal Screening,?5(2), 20.?https://www.mdpi.com/2409-515X/5/2/20/pdf????less1 UnreadUnread7 ViewsViews 7 1 1 RepliesReplies 1 View profile card for Steven Bartos Last post?March 21 at 10:00 PM?by Steven Bartos Nickel, R. S., & Hsu, L. L. (2016). Clinical manifestations of sickle cell anaemia: infants and children. In?Sickle Cell Anemia?(pp. 213-229). Springer, Cham.?
http://ndl.ethernet.edu.et/bitstream/123456789/42788/1/pdf.237#page=223 Huether, S. E., McCance, K. L. & Brashers, V. L. (2020).?Understanding Pathophysiology 7th?ed. Elsevier Mosby. The first clinical manifestation of sickle cell anemia is the vaso-occlusive crisis which occurs due to obstruction of microcirculation resulting in ischemic injuries and pain to the organs. This is associated with increased emergency department visits and hospitalization among patients with SCD. The pain can affect any body part, including soft tissues, joints, abdomen and bones (Nickel & Hsu, 2016). The other manifestation associated with the pain is infarctions and auto-splenectomy that affects the spleen resulting in failures and life-threatening infections. Papillary necrosis is a renal manifestation that results in isosthenuria. The other manifestation is the aplastic crisis which is caused by infection with?Parvovirus B-19, causing fifth disease, mild rash, and fever.? Splenic sequestration is characterized by rapid enlargement of the spleen and increased reticulocyte counts.
Sickle cell disease can also cause progressive injury to the liver with significant fibrosis, often cirrhosis, and decreased liver function by adulthood. Asymptomatic patients commonly have hepatomegaly and elevated liver enzyme levels. Other manifestations include acute chest syndrome and hand-foot syndrome. Sickle Cell AnemiaSubscribe Lois Chappell posted Mar 21, 2021 9:39 PM Contains unread posts ? ? ?Sickle cell disease an autosomal recessive genetic disorder belonging to a?is a group of inherited red blood cell disorders affecting millions of people?worldwide (Sundd, Gladwin,& Novelli, 2019).? Sickle cell anemia is the?most common form of the disease, and accounts for 70% of African?Americans who have sickle cell disease (Sundd, Gladwin, & Novelli, 2019).??In sickle cell disease, red blood cells that are normally round become hard and?sticky and form a ?c? shape, causing them to get stuck during normal blood flow.??
Along with endothelial interactions, systemic inflammation, oxidant stress, and??activation of the coagulation system, these cellular alterations can cause the??predominant symptoms of sickle cell disease including stroke, acute chest syndrome and infection (Centers ?for Disease Control, 2021).? ? ?Center for Disease Control and Prevention (2021).? Sickle Cell Disease.? Retrieved from? ? ?Field, J., Vichinsky, E., Tyrnauer, J.? (2021).? Acute chest syndrome in adults with sickle cell disease.? Retrieved from? ? ?Ochocinski, D.,? Dalal, M., Black, L. Vandy, C., Lew, J., Sullivan, ?K., and Kissoon, N.? (2020).? Life-threatening infectioushttps://doi.org/10.3389/fped.2020.00038.292. https://doi.org/10.1146/annurev-pathmechdis-012418-012838.???????????less0 UnreadUnread 0 ViewsViews 0 0 0 RepliesReplies 0 ? ? ?Sundd, P., Gladwin, M. T., & Novelli, E. M. (2019). Pathophysiology of Sickle Cell Disease.?Annual review of pathology,?14, 263? complications in sickle cell disease: a concise narrative review.??Frontiers in Pediatrics,?8.? ?Retrieved from https://www.uptodate.com/contents/acute-chest-syndrome-in-adults-with-sickle-cell-disease. https://www.cdc.gov/ncbddd/sicklecell/index.html. ????
In sickle cell disease, strokes can occur as a result of red blood cells getting stuck in a vessel, reducing blood flow to the brain (Centers for Disease Control, 2021).? Acute chest syndrome can be caused by infection, asthma, or hypoventilation or as the result of? fat emboli, bone marrow necrosis or both (Up to Date, 2021).? Infection in sickle cell disease is due to impaired splenic clearance of bacteria (Ochocinski, Dalal, Black, Vandy, Lew, Sullivan, and Kissoon, 2020). Module 9Subscribe Hilary Szpara posted Mar 17, 2021 12:09 PM Contains unread posts Sickle cell disease is a broad term that describes a group of conditions which arise from the inheritance of hemoglobin S (HbS) (Houwing et al., 2019). There are different variations of the gene mutation and people can also have the sickle cell trait or be a sickle cell carrier (Houwing et al., 2019). Sickle cell disease is an inherited disease that is autosomal recessive and is caused by single mutation in the B-globin gene (Houwing et al., 2019). There are four major pathobiological processes which drive the disease; including vaso-occlusion, hemolysis-mediated endothelial dysfunction, sterile inflammation, and hemoglobin S polymerization (Sundd et al., 2019). ?With hemoglobin S polymerization, the hemoglobin S polymers grow rapidly and form long fibers which increase cellular rigidity and distort the cell membrane, leading to the sickling of the cell, dehydration, energetic failure and stress, and premature hemolysis (Sundd et al., 2019).
Vaso-occlusion leading to ischemia is responsible for the vaso-occlusive crises. Chronic hemolysis and sickle shape increases the plasma viscosity and contributes to the impaired flow of blood through capillaries (Sundd et al., 2019). Endothelial dysfunction occurs due to the chronic hemolysis, which results in anemia. The anemia exerts extra stress on the cardiovascular system by increasing cardiac output, ventricular chamber dilation, and ventricular wall stress (Sundd et al., 2019). Vaso-occlusion contribute to the ischemia-reperfusion injury, along with the release of erythrocyte damage-associated molecular patterns (eDAMPs), which are products of hemolysis, contribute to the process of sterile inflammation (Sundd et al., 2019)