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What is the main cause of sickle cell anemia?
What is the main cause of sickle cell anemia?
What complication is characterized by painful swelling of the hands and feet in sickle cell anemia?
What complication is characterized by painful swelling of the hands and feet in sickle cell anemia?
What percentage of patients with sickle cell anemia typically experiences a vaso-occlusive crisis?
What percentage of patients with sickle cell anemia typically experiences a vaso-occlusive crisis?
Which of the following is NOT a common trigger for sickling of red blood cells?
Which of the following is NOT a common trigger for sickling of red blood cells?
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Which life-threatening condition can develop from acute chest syndrome if not treated immediately?
Which life-threatening condition can develop from acute chest syndrome if not treated immediately?
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What is a serious complication of sickle cell anemia in males that can occur repeatedly?
What is a serious complication of sickle cell anemia in males that can occur repeatedly?
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What is the typical life expectancy reduction for individuals with sickle cell anemia?
What is the typical life expectancy reduction for individuals with sickle cell anemia?
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What occurs in an aplastic crisis related to sickle cell anemia?
What occurs in an aplastic crisis related to sickle cell anemia?
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What percentage of total hemoglobin is HbS in a carrier of the sickle cell gene?
What percentage of total hemoglobin is HbS in a carrier of the sickle cell gene?
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Which imaging technique is indicated for assessing neurologic crises in sickle cell disease?
Which imaging technique is indicated for assessing neurologic crises in sickle cell disease?
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What is the typical appearance of vertebrae seen on radiographs of patients with increased erythropoiesis?
What is the typical appearance of vertebrae seen on radiographs of patients with increased erythropoiesis?
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What is the mortality rate of septicemia and meningitis in children with sickle cell anemia during the first 5 years of life?
What is the mortality rate of septicemia and meningitis in children with sickle cell anemia during the first 5 years of life?
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What was the average age of death for female patients with sickle cell anemia?
What was the average age of death for female patients with sickle cell anemia?
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How has the average life expectancy of people with sickle cell anemia changed in recent years?
How has the average life expectancy of people with sickle cell anemia changed in recent years?
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Which finding is observed in radiographs of pediatric patients within 5 weeks of hand-foot syndrome onset?
Which finding is observed in radiographs of pediatric patients within 5 weeks of hand-foot syndrome onset?
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What has been a major obstacle in the progress toward successful gene therapy for sickle cell disease?
What has been a major obstacle in the progress toward successful gene therapy for sickle cell disease?
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What is the primary cause of irreversible sickling in red blood cells?
What is the primary cause of irreversible sickling in red blood cells?
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Which hematocrit range is typically seen in patients with Sickle Cell Anemia (SCA)?
Which hematocrit range is typically seen in patients with Sickle Cell Anemia (SCA)?
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Which laboratory feature is characteristically elevated in patients with SCA?
Which laboratory feature is characteristically elevated in patients with SCA?
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What characteristic feature is observed in the peripheral blood smear of a patient with SCA?
What characteristic feature is observed in the peripheral blood smear of a patient with SCA?
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What is a typical finding in patients with reduced splenic function related to SCA?
What is a typical finding in patients with reduced splenic function related to SCA?
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What percentage of circulating erythrocytes do reticulocytes normally account for?
What percentage of circulating erythrocytes do reticulocytes normally account for?
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What leads to the influx of calcium ions into red blood cells in the context of irreversible sickling?
What leads to the influx of calcium ions into red blood cells in the context of irreversible sickling?
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What abnormal characteristic do target cells exhibit?
What abnormal characteristic do target cells exhibit?
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What is the primary goal of a blood transfusion in the management of acute chest syndrome?
What is the primary goal of a blood transfusion in the management of acute chest syndrome?
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Which treatment options are appropriate for managing priapism?
Which treatment options are appropriate for managing priapism?
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What may be necessary to treat chronic leg ulcers that are not healing properly?
What may be necessary to treat chronic leg ulcers that are not healing properly?
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What is the description of an exchange transfusion?
What is the description of an exchange transfusion?
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Bone marrow and stem cell transplantation are primarily limited to a small minority of patients due to which of the following reasons?
Bone marrow and stem cell transplantation are primarily limited to a small minority of patients due to which of the following reasons?
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What is a potential complication of bone marrow and stem cell transplantation?
What is a potential complication of bone marrow and stem cell transplantation?
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Which treatment is not commonly indicated for pain crises that do not respond to standard treatments?
Which treatment is not commonly indicated for pain crises that do not respond to standard treatments?
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Which of the following is a key component in the management of an aplastic crisis in patients?
Which of the following is a key component in the management of an aplastic crisis in patients?
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What is primarily responsible for the sickle shape of red blood cells in sickle cell anemia?
What is primarily responsible for the sickle shape of red blood cells in sickle cell anemia?
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Which of the following complications is most directly associated with sickle cell anemia?
Which of the following complications is most directly associated with sickle cell anemia?
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What is a common result of the hemolytic anemia caused by sickle cell disease?
What is a common result of the hemolytic anemia caused by sickle cell disease?
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Which was the primary symptom described by the physician in the first account of sickle cell anemia?
Which was the primary symptom described by the physician in the first account of sickle cell anemia?
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Why is sickle cell anemia categorized as an autosomal recessive disease?
Why is sickle cell anemia categorized as an autosomal recessive disease?
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What triggers the pathophysiological changes in red blood cells in sickle cell anemia?
What triggers the pathophysiological changes in red blood cells in sickle cell anemia?
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What is a significant consequence of the altered shape of red blood cells in individuals with sickle cell anemia?
What is a significant consequence of the altered shape of red blood cells in individuals with sickle cell anemia?
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What is a defining characteristic of hemolytic anemias like sickle cell anemia?
What is a defining characteristic of hemolytic anemias like sickle cell anemia?
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Study Notes
Sickle Cell Anemia Overview
- Sickle cell anemia (SCA) is a severe autosomal recessive blood disorder characterized by abnormal hemoglobin (HbS) causing red blood cells (RBCs) to form a sickle shape.
- Hemolytic anemia occurs due to the premature destruction of RBCs, leading to increased erythropoiesis, iron retention, and bilirubin buildup.
- SCA is one of three inherited blood disorders within sickle cell disease (SCD).
Clinical Manifestations
- Symptoms include severe pain, organ failure, hemolytic anemia, shortness of breath, anemia, palpitations, and icterus.
- Acute sequestration crisis can lead to painful enlargement of the liver and spleen in infants.
- Foot-hand syndrome occurs between 6 months and 3 years, characterized by painful swelling in hands and feet.
- Strokes are common in children and can recur, affecting approximately two-thirds of patients.
Complications of SCA
- Vaso-occlusive crisis is a frequent complication in adults, causing severe pain and accounting for 90% of hospital admissions.
- Acute chest syndrome is a medical emergency, presenting with chest pain, difficulty breathing, and can lead to respiratory distress.
- Aplastic and hemolytic crises result in profound anemia and high-output heart failure.
- Priapism, an abnormal prolonged erection, occurs in up to 40% of males with SCA.
Genetic Basis
- SCA is caused by a point mutation in the beta-globin chain of hemoglobin, leading to valine substitution for glutamic acid.
- HbS leads to a significant loss of RBC lifespan (10-20 days) compared to the normal 120 days.
Pathophysiology
- Pathophysiological triggers for sickling include low oxygen tension, high hydrogen ion concentration, cold temperature, and dehydration.
- Sickling is often reversible but can become permanent due to repeated episodes damaging RBC membranes.
Laboratory Features
- Hallmark laboratory findings in SCA include a hematocrit of 18%-30%, elevated white blood cell count, and presence of irreversibly sickled cells.
- Serum bilirubin levels are elevated due to hemolysis, leading to jaundice and potential pigment gallstones.
Diagnostic Tools
- Imaging techniques such as CT, MRI, and X-rays can identify complications and monitor organ health.
- Common X-ray findings in acute chest syndrome show changes in vertebrae and lung structure.
Management Strategies
- Treatment includes analgesics, oxygen, antibiotics, and blood transfusions to reduce HbS levels.
- Aplastic crisis and priapism require appropriate medical interventions, including potential surgical drainage.
- Pain crises may be managed through exchange transfusions, while bone marrow and stem cell transplants can potentially cure SCA in children, although they carry significant risks.
Prognosis
- Life expectancy for SCA patients has improved; average ages of death are 42 for males and 48 for females, though reports of patients living into their 70s exist.
- Individuals with sickle cell trait usually have a normal life expectancy but may experience complications in extreme conditions.
Economic and Social Impact
- SCA contributes to substantial economic loss and disability, with a notable mortality rate before reaching adulthood.
- Early medical intervention and advances in care continue to improve patient outcomes and quality of life.
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Description
This quiz covers the characteristics and classifications of sickle cell anemia, a group of inherited blood disorders. Explore its definition, related blood cell destruction, and iron retention issues. Get ready to deepen your understanding of this critical health topic.
