NUR 631 Topic 4 DQ 2

Sample Answer for NUR 631 Topic 4 DQ 2 Included After Question

Answer both of the following discussion questions for your discussion response using the “Discussion Forum Sample.”

  1. Discuss the epidemiology of thalassemia and share evidence-based practice guidelines necessary for chronic management.
  2. Sickle-cell anemia has treatment parameters in the chronic state and acute exacerbation. The acute phase requires aggressive hydration and pain medication. What is the physiologic pattern for this problem?

A Sample Answer For the Assignment: NUR 631 Topic 4 DQ 2

Tit;le: NUR 631 Topic 4 DQ 2

  1. The α-and β-thalassemias are inherited autosomal recessive disorders that cause an impaired synthesis of one of the two chains—α or β—of adult hemoglobin (HbA) (McCance et al., 2018a). The disorder was named thalassemia , which is derived from the Greek word for sea, because it was initially described in people with origins near the Mediterranean Sea (McCance et al., 2018a). β-Thalassemia, in which synthesis of the β-globin chain is slowed or defective, is prevalent among Greeks, Italians, and some Arabs and Sephardic Jews. α-Thalassemia, in which the α chain is affected, is most common among Chinese, Vietnamese, Cambodians, and Laotians (McCance et al., 2018a). Both α-and β-thalassemias are common among blacks. Anemia associated with thalassemia is microcytic-hypochromic hemolytic anemia (McCance et al., 2018a). Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world (What Is Thalassemia? | CDC, 2020). This condition causes both males and females to inherit the relevant gene mutations equally because it follows an autosomal pattern of inheritance with no preference for gender (What Is Thalassemia? | CDC, 2020). Approximately 5% of the worldwide population has a variation in the alpha or beta part of the hemoglobin molecule, although not all of these are symptomatic and some are known as silent carriers (What Is Thalassemia? | CDC, 2020). In fact, only 1.7% of the global population has signs as a result of the gene mutations, which is known as a thalassemia trait (What Is Thalassemia? | CDC, 2020). However, particular ethnic groups are more likely to be affected, with between 5% and 30% of these populations experiencing symptoms of thalassemia (What Is Thalassemia? | CDC, 2020). Treatment of thalassemias involves a regular transfusion program and chelation therapy to reduce transfusion iron overload (McCance et al., 2018a). Milder forms of thalassemia rarely require transfusion, and these individuals are at risk for iron overload secondary to increased intestinal absorption of iron from ineffective erythropoiesis (McCance et al., 2018a). 46 The only available definitive cure for thalassemia major is by allogeneic hematopoietic stem cell transplantation (HSCT) from a matched family or unrelated donor or cord blood transplantation from a related donor (McCance et al., 2018a). 46 Optimal clinical management may decrease the need for splenectomy (McCance et al., 2018a). For less severe thalassemia (sometimes called intermedia ), splenectomy may be done for those with the most affected symptoms, as well as sporadic red cell transfusions for some, folic acid supplementation, and iron chelation (McCance et al., 2018a).
  2. Sickle cell disease (SCD) is a group of disorders that affects hemoglobin characterized by the presence of an atypical form of hemoglobin—hemoglobin S (HbS; sickle hemoglobin) within the erythrocytes (McCance et al., 2018a). It is a common hereditary hemoglobinopathy where HbS is formed by a genetic point mutation (missense) in β-globin that leads to the replacement of one glutamate amino acid with a valine amino acid (McCance et al., 2018a). There is much variation in the clinical manifestations of sickle cell disease . Some individuals have mild symptoms and others suffer from repeated vaso-occlusive crises. 7 Clinical manifestations of SCD may first be seen at 6 to 12 months of age as fetal hemoglobin is replaced by HbS (McCance et al., 2018a).
  3. Two characteristics of SCD determine presentation: the first is its nature to be a chronic disease with acute exacerbations; the second is that it is a condition affecting RBCs that supply oxygen to all cells of the body. Therefore SCD can affect any part of the body (McCance et al., 2018a). When sickling occurs, the general manifestations of hemolytic anemia—pallor, fatigue, jaundice, and irritability—sometimes are accompanied by acute manifestations called crises (McCance et al., 2018a). Extensive sickling can precipitate four types of crises: (1) vaso-occlusive crisis, (2) aplastic crisis, (3) sequestration crisis, or rarely (4) hyperhemolytic crisis (McCance et al., 2018a).  Vaso-occlusive crises (pain crises) are events of hypoxic injury and infarction that can cause severe pain in affected areas.
  4. However, the specific cause of sensory pain lacks sufficient characterization (McCance et al., 2018a). The most common sites include bones, lungs, spleen, liver, brain, and penis (McCance et al., 2018a). Painful bone crises are very common in children and are difficult to distinguish from acute osteomyelitis (McCance et al., 2018a). These bone alterations can manifest as painful swelling of the hands and feet ( hand-foot syndrome or dactylitis ) (McCance et al., 2018a). A high-risk type of vaso-occlusive crisis involves the lungs known as acute chest syndrome (McCance et al., 2018a) . It typically presents with fever, cough, chest pain, and accumulations of lung infiltrates (McCance et al., 2018a).
  5. The complications in the lungs create a worsening cycle of hypoxemia, sickling, and vaso-occlusion (McCance et al., 2018a). Acute chest syndrome is the cause of death in approximately 25% of all deaths in people with SCD (McCance et al., 2018a). Vaso-occlusive crisis is extremely painful and may last for days or even weeks (McCance et al., 2018a). The frequency of this type of crisis is variable and unpredictable because it may develop spontaneously or be precipitated by infection, exposure to cold, dehydration, low P O 2 , acidosis (low pH), or localized hypoxemia (McCance et al., 2018a).
  6. Aplastic crisis , a transient cessation in RBC production resulting in acute anemia, occurs as a result of a viral infection, almost always infection with parvovirus B1 (McCance et al., 2018a). The virus causes temporary shutdown of RBC production in the bone marrow but hemolysis continues (McCance et al., 2018a). The outcome is a sudden drop in hemoglobin level with an extremely low reticulocyte count (McCance et al., 2018a). In sequestration crisis , large amounts of blood become pooled in the spleen (McCance et al., 2018a). Massive large amounts of sickle red cells lead to a rapid splenic enlargement, hypovolemia, and sometimes shock (McCance et al., 2018a). Sequestration crisis and acute chest syndrome may be fatal and can require prompt treatment with exchange transfusions (McCance et al., 2018a). Hyperhemolytic crisis, an accelerated rate of RBC destruction, is unusual but may occur in association with certain drugs or infections (McCance et al., 2018a). It is characterized by anemia, jaundice, and reticulocytosis (McCance et al., 2018a).

McCance, K. L., Huether, S. E., & Rote, N. S. (2018a). Pathophysiology: The Biologic Basis for Disease in Adults and Children. Mosby.

What is Thalassemia? | CDC. (2020, May 14). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/thalassemia/facts.html

A Sample Answer 2 For the Assignment: NUR 631 Topic 4 DQ 2

Title: NUR 631 Topic 4 DQ 2

Thalassemia and sickle-cell anemia are both disorders of the hemoglobin protein. Both are genetic in nature and affect the alpha and beta chains of the hemoglobin molecule. According to Chonat and Quinn, thalassemia derives from a Greek origin meaning “sea” and “blood”, this is pertinent to the condition because it most often occurs in people of Mediterranean descent, it is also found in Africans, Asian subcontinent, southeast Asia, and the Middle East (2017). This condition is divided into two groups, alpha-thalassemia, and beta-thalassemia. Alpha and beta-thalassemia occur when there is absent chain synthesis for both the alpha and beta groups and is usually found defective.

According to Chonat and Quinn, the alpha gene cluster which expresses alpha-thalassemia is found on chromosome 16 meanwhile the beta gene cluster is found on chromosome 11, hence thalassemia being a genetic disorder. The severity of thalassemia depends on the type and number of genetic defects in the alpha and beta globin genes (2017). The management of thalassemia varies but the most common treatment is chronic blood transfusions to support normal hemoglobin molecules. Long-term management for thalassemia is dependent on clinical characteristics and may vary from person to person. Evidence-based practice suggests that the appropriate management for thalassemia includes iron chelation therapy, chronic transfusions, induction of fetal beta hemoglobin, and splenectomy (Chonat & Quinn, 2017).

Blood transfusion therapy is necessary for managing beta-thalassemia and can also improve outcomes by reducing symptomatic anemia, improving growth and development, suppressing ineffective red blood cell formation, and reducing iron loading from increased gastrointestinal absorption (2017). Iron chelation therapy is indicated for individuals with elevated iron loading from GI absorption with ineffective erythropoiesis. A splenectomy is only considered to improve the symptoms of anemia and minimize growth failure in children (2017).

Sickle-cell anemia is characterized by a group of disorders in which the hemoglobin protein is abnormally shaped like a crescent and can be extremely painful. Individuals with sickle cell disease (SCD) experience excruciating painful symptoms that require medical management. The pain stems from small vessel occlusions and ischemia from blocked sickled cells. In chronic conditions, SCD may be controlled with transfusions and medications such as hydroxyurea (McCance et.al, 2019). In acute exacerbations, however, the deformation of erythrocytes leads to small vessel (microvascular) occlusions and can be detrimental to organ health. A dehydrated patient with SCD must be started on intravenous fluids because dehydration exacerbates the sickling of cells (McCance et.al, 2019). Pushing intravenous fluids balances pH, changes the viscosity of blood, and increases blood flow to prevent occlusions. Pain management helps with the effects of hypoxemia from microvascular occlusions and sickling cells.

References:

Chonat, S., & Quinn, C. T. (2017). Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease. Advances in experimental medicine and biology1013, 59–87. https://doi.org/10.1007/978-1-4939-7299-9_3

McCance, K. L., Huether, S. E., Brashers, V. L., Rote, N. S. (2019). Pathophysiology: The biologic basis for disease in adults and children (Eighth ed.). Elsevier