Cohort Definition Name: “Sickle Cell Anemia”
Contributor name: Joel N. Swerdel
Contributor OrcId: 0000-0001-9491-2737
Logic Description: First occurrence of Sickle Cell Anemia.
Recommended study application: outcome, indication
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
sickleCell.txt (1.8 KB)
Target Clinical Description
Sickle cell anemia is an inherited blood disorder characterized by abnormal hemoglobin, known as hemoglobin S. This abnormal hemoglobin causes red blood cells to become rigid, sticky, and assume a sickle shape, which can impair their ability to deliver oxygen to tissues. Sickle cell anemia is a chronic condition that can result in episodes of pain, organ damage, anemia, and various complications. It predominantly affects individuals of African, Mediterranean, Middle Eastern, and Indian descent.
Presentation for sickle cell anemia:
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Episodes of pain (sickle cell crises), typically in the bones, chest, abdomen, or joints
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Fatigue and weakness due to chronic anemia
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Shortness of breath
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Yellowing of the skin and eyes (jaundice)
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Delayed growth and development in children
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Frequent infections, particularly of the respiratory and urinary tracts
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Hand-foot syndrome, characterized by swelling and pain in the hands and feet
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Leg ulcers, particularly in the lower legs
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Vision problems, including retinopathy
Assessment for sickle cell anemia:
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Complete blood count (CBC) to evaluate red blood cell count, hemoglobin levels, and other parameters
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Hemoglobin electrophoresis to confirm the presence of hemoglobin S and determine the type of sickle cell disease
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Monitoring of reticulocyte count to assess the rate of red blood cell production
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Assessment of organ function, including liver, kidney, and heart function
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Imaging tests, such as ultrasound or MRI, to evaluate organ damage or complications
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Assessment of growth and development in children
Differential diagnoses for sickle cell anemia:
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Other types of sickle cell disease, such as sickle cell trait or other hemoglobinopathies
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Hemolytic anemias, including autoimmune hemolytic anemia or hereditary spherocytosis
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Thalassemias, such as beta-thalassemia
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Other causes of chronic anemia, including iron deficiency anemia or vitamin B12 deficiency
Treatment plan for sickle cell anemia:
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Pain management during sickle cell crises, using pain medications (analgesics) as needed.
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Hydroxyurea, a medication that can help reduce the frequency of pain crises and complications.
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Blood transfusions to increase the number of healthy red blood cells and improve oxygen delivery.
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Prevention and management of infections through vaccinations and early treatment of infections.
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Supplemental oxygen therapy to improve oxygen levels in severe cases.
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Regular monitoring and management of complications, such as organ damage, leg ulcers, and stroke prevention.
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Supportive care, including maintaining good hydration, avoiding triggers of crises (such as extreme temperatures or dehydration), and following a healthy lifestyle.
Prognosis for sickle cell anemia:
The prognosis of sickle cell anemia varies depending on the severity of the disease and the individual’s access to comprehensive care. With advancements in treatment and supportive care, the life expectancy and quality of life for individuals with sickle cell anemia have improved. However, the condition is chronic and requires ongoing management to prevent complications and maintain optimal health. Early diagnosis, regular follow-up, adherence to treatment plans, and healthy lifestyle choices can greatly improve the prognosis and reduce the impact of the disease on daily life.