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Questions and Answers
What is the primary function of hemoglobin in red blood cells?
What is the name of the abnormal hemoglobin produced in sickle cell disease?
What is the primary cause of anemia in sickle cell disease?
What is the goal of hydroxyurea therapy in sickle cell disease?
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What is the name of the life-threatening condition characterized by chest pain, fever, and respiratory distress in sickle cell disease?
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What is the primary method of diagnosing sickle cell disease in newborns?
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What is the curative treatment option for some patients with sickle cell disease?
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What is the primary complication of sickle cell disease that can lead to heart failure?
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Study Notes
Definition and Causes
- Sickle cell disease (SCD) is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues.
- It is caused by a mutation in the HBB gene that codes for hemoglobin, resulting in the production of abnormal hemoglobin called sickle hemoglobin (HbS).
Pathophysiology
- HbS is less soluble than normal hemoglobin and forms long, rigid fibers that cause red blood cells to become misshapen and take on a sickle-like appearance.
- These sickled cells are more prone to aggregation and can get stuck in small blood vessels, leading to:
- Vaso-occlusion: Reduced blood flow to organs and tissues, causing pain and damage.
- Hemolysis: Premature destruction of red blood cells, leading to anemia.
Symptoms
- Anemia: Fatigue, weakness, pale skin, and shortness of breath.
- Vaso-occlusive episodes: Recurring pain in the hands, feet, and joints.
- Increased risk of infections: particularly pneumococcal infections.
- Organ damage: Kidney damage, blindness, and stroke.
- Delayed growth and development in children.
Diagnosis
- Newborn screening: Blood test to detect HbS at birth.
- Hemoglobin electrophoresis: Laboratory test to identify abnormal hemoglobin.
- Genetic testing: DNA analysis to identify the HBB mutation.
Treatment and Management
- Pain management: Medications to alleviate vaso-occlusive episodes.
- Blood transfusions: To increase oxygen delivery and reduce anemia.
- Hydroxyurea: Medication to increase production of fetal hemoglobin, reducing sickling.
- Antibiotics: To prevent and treat infections.
- Bone marrow transplantation: A curative treatment option for some patients.
Complications
- Acute chest syndrome: A life-threatening condition characterized by chest pain, fever, and respiratory distress.
- Stroke: Increased risk of stroke due to blood vessel damage.
- Pulmonary hypertension: Increased blood pressure in the lungs, leading to heart failure.
- Kidney disease: Chronic kidney damage and failure.
Inheritance and Epidemiology
- Autosomal recessive inheritance: A person must inherit two copies of the mutated HBB gene to develop SCD.
- Most common in people of African, Mediterranean, and Middle Eastern descent.
- Affects approximately 1 in 500 African Americans and 1 in 1,000 Hispanic Americans.
Definition and Causes
- Sickle cell disease (SCD) is a genetic disorder that affects hemoglobin production in red blood cells.
- It is caused by a mutation in the HBB gene, resulting in the production of abnormal hemoglobin called sickle hemoglobin (HbS).
Pathophysiology
- HbS is less soluble than normal hemoglobin and forms long, rigid fibers that cause red blood cells to become misshapen and take on a sickle-like appearance.
- Sickled cells are more prone to aggregation and can get stuck in small blood vessels, leading to vaso-occlusion and hemolysis.
- Vaso-occlusion reduces blood flow to organs and tissues, causing pain and damage.
- Hemolysis leads to premature destruction of red blood cells, resulting in anemia.
Symptoms
- Anemia causes fatigue, weakness, pale skin, and shortness of breath.
- Vaso-occlusive episodes cause recurring pain in the hands, feet, and joints.
- Increased risk of infections, particularly pneumococcal infections.
- Organ damage includes kidney damage, blindness, and stroke.
- Delayed growth and development in children.
Diagnosis
- Newborn screening detects HbS at birth through a blood test.
- Hemoglobin electrophoresis identifies abnormal hemoglobin in a laboratory test.
- Genetic testing involves DNA analysis to identify the HBB mutation.
Treatment and Management
- Pain management involves medications to alleviate vaso-occlusive episodes.
- Blood transfusions increase oxygen delivery and reduce anemia.
- Hydroxyurea medication increases production of fetal hemoglobin, reducing sickling.
- Antibiotics prevent and treat infections.
- Bone marrow transplantation is a curative treatment option for some patients.
Complications
- Acute chest syndrome is a life-threatening condition characterized by chest pain, fever, and respiratory distress.
- Stroke is a complication due to blood vessel damage.
- Pulmonary hypertension is increased blood pressure in the lungs, leading to heart failure.
- Kidney disease is a result of chronic kidney damage and failure.
Inheritance and Epidemiology
- SCD is inherited in an autosomal recessive pattern, requiring two copies of the mutated HBB gene.
- SCD is most common in people of African, Mediterranean, and Middle Eastern descent.
- The disease affects approximately 1 in 500 African Americans and 1 in 1,000 Hispanic Americans.
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Description
Learn about sickle cell disease, a genetic disorder that affects hemoglobin production, and its causes, including the mutation in the HBB gene and production of abnormal hemoglobin.
