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Questions and Answers
What is the genetic defect that causes sickle cell disease?
What is the genetic defect that causes sickle cell disease?
What is the effect of sickle hemoglobin (HbS) on red blood cells?
What is the effect of sickle hemoglobin (HbS) on red blood cells?
What is a common symptom of sickle cell disease?
What is a common symptom of sickle cell disease?
What is a potential complication of sickle cell disease?
What is a potential complication of sickle cell disease?
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What is the purpose of hydroxyurea in managing sickle cell disease?
What is the purpose of hydroxyurea in managing sickle cell disease?
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What is a potential cure for sickle cell disease?
What is a potential cure for sickle cell disease?
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What is a common complication of sickle cell disease?
What is a common complication of sickle cell disease?
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What is a common method used to diagnose sickle cell disease?
What is a common method used to diagnose sickle cell disease?
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Study Notes
Definition and Causes
- Sickle cell disease (SCD) is a genetic disorder that affects hemoglobin, a protein in red blood cells.
- It is caused by a mutation in the HBB gene that codes for hemoglobin subunit beta.
- The mutation leads to the production of abnormal hemoglobin, called sickle hemoglobin (HbS).
Pathophysiology
- HbS is prone to polymerization, causing red blood cells to become rigid and sickle-shaped.
- Sickled cells can get stuck in small blood vessels, leading to vaso-occlusion and ischemia.
- Repeated episodes of vaso-occlusion can cause chronic organ damage and organ failure.
Symptoms and Complications
- Anemia: sickled cells have a shorter lifespan, leading to chronic anemia.
- Pain episodes: vaso-occlusion can cause recurring pain in the hands, feet, and joints.
- Infections: people with SCD are more prone to infections, especially pneumonia and osteomyelitis.
- Organ damage: repeated vaso-occlusion can lead to damage in organs such as the kidneys, liver, and spleen.
- Stroke: SCD increases the risk of stroke due to blood vessel blockage.
Diagnosis
- Screening tests: newborn screening tests can detect HbS.
- Diagnostic tests: hemoglobin electrophoresis, sickle solubility test, and genetic testing can confirm the diagnosis.
Management and Treatment
- Pain management: medications such as acetaminophen and opioids can help manage pain.
- Hydroxyurea: a medication that can help reduce the frequency of pain episodes and prevent complications.
- Blood transfusions: can help increase oxygen delivery to tissues and organs.
- Bone marrow transplant: a potential cure for SCD, but it carries risks and is not always available.
Complications and Prognosis
- Increased risk of mortality: SCD can lead to premature death, especially in resource-poor countries.
- Quality of life: SCD can significantly impact quality of life due to recurring pain episodes and chronic organ damage.
- Pregnancy complications: women with SCD are at higher risk of pregnancy-related complications.
Definition and Causes
- Genetic disorder that affects hemoglobin in red blood cells
- Caused by mutation in the HBB gene, coding for hemoglobin subunit beta
- Leads to production of abnormal hemoglobin, called sickle hemoglobin (HbS)
Pathophysiology
- HbS prone to polymerization, causing red blood cells to become rigid and sickle-shaped
- Sickled cells can get stuck in small blood vessels, leading to vaso-occlusion and ischemia
- Repeated vaso-occlusion causes chronic organ damage and organ failure
Symptoms and Complications
- Anemia due to shorter lifespan of sickled cells
- Recurring pain episodes in hands, feet, and joints due to vaso-occlusion
- Increased risk of infections, especially pneumonia and osteomyelitis
- Organ damage, including kidneys, liver, and spleen, due to repeated vaso-occlusion
- Increased risk of stroke due to blood vessel blockage
Diagnosis
- Newborn screening tests detect HbS
- Hemoglobin electrophoresis, sickle solubility test, and genetic testing confirm diagnosis
Management and Treatment
- Pain management with medications like acetaminophen and opioids
- Hydroxyurea reduces frequency of pain episodes and prevents complications
- Blood transfusions increase oxygen delivery to tissues and organs
- Bone marrow transplant is a potential cure, but carries risks and is not always available
Complications and Prognosis
- Increased risk of premature death, especially in resource-poor countries
- Significant impact on quality of life due to recurring pain episodes and chronic organ damage
- Higher risk of pregnancy-related complications in women with SCD
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Description
Learn about the genetic disorder that affects hemoglobin, its causes, and how it affects red blood cells and blood vessels.
