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Which of the following is the underlying mutation in HbC disease?
Which of the following is the underlying mutation in HbC disease?
What is the major cause of pathogenesis in sickle cell disease?
What is the major cause of pathogenesis in sickle cell disease?
What type of anemia is sickle cell disease?
What type of anemia is sickle cell disease?
Which population is primarily affected by sickle cell disease?
Which population is primarily affected by sickle cell disease?
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What is the genetic nature of sickle cell disease?
What is the genetic nature of sickle cell disease?
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What proportion of sickled RBCs undergo intravascular hemolysis?
What proportion of sickled RBCs undergo intravascular hemolysis?
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Which condition is characterized by the loss of three α-globin genes, relative excess of β-globin chains, and the formation of stable β4 tetramers?
Which condition is characterized by the loss of three α-globin genes, relative excess of β-globin chains, and the formation of stable β4 tetramers?
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What is the consequence of deletion of all four α-globin genes?
What is the consequence of deletion of all four α-globin genes?
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In which condition does the excess in γ-globin chains lead to the formation of γ4 tetramers (Hb Barts)?
In which condition does the excess in γ-globin chains lead to the formation of γ4 tetramers (Hb Barts)?
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Which condition is characterized by the proportional severity of the disease to the number of missing α-globin genes?
Which condition is characterized by the proportional severity of the disease to the number of missing α-globin genes?
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Which test is considered the best for diagnosing sickle cell disease?
Which test is considered the best for diagnosing sickle cell disease?
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What is the characteristic feature seen in HbC disease on peripheral blood smear (PBS)?
What is the characteristic feature seen in HbC disease on peripheral blood smear (PBS)?
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What is the clinical behavior of HbSC disease?
What is the clinical behavior of HbSC disease?
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What demographic is endemic for thalassemias?
What demographic is endemic for thalassemias?
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Which type of thalassemia is characterized by decreased/absent α-globin chains with excess of β-globin chains?
Which type of thalassemia is characterized by decreased/absent α-globin chains with excess of β-globin chains?
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What is the primary mechanism of anemia in β-thalassemia?
What is the primary mechanism of anemia in β-thalassemia?
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What is the characteristic feature of HbC disease in terms of erythrocyte morphology?
What is the characteristic feature of HbC disease in terms of erythrocyte morphology?
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Which test is used in review books but is not clinically indicated for screening or managing sickle cell disorders?
Which test is used in review books but is not clinically indicated for screening or managing sickle cell disorders?
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What does the presence of Howell-Jolly bodies in patients with sickle cell anemia indicate?
What does the presence of Howell-Jolly bodies in patients with sickle cell anemia indicate?
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What is the result of a high serum bilirubin level in patients with sickle cell anemia?
What is the result of a high serum bilirubin level in patients with sickle cell anemia?
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What feature distinguishes HbSC disease from sickle cell anemia (SCA)?
What feature distinguishes HbSC disease from sickle cell anemia (SCA)?
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What is the primary consequence of excess unpaired α-chains in β-thalassemia?
What is the primary consequence of excess unpaired α-chains in β-thalassemia?
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What is the primary event in the pathogenesis of β-thalassemia?
What is the primary event in the pathogenesis of β-thalassemia?
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In β-thalassemia, what results in extensive extramedullary hematopoiesis and hepato- and splenomegaly?
In β-thalassemia, what results in extensive extramedullary hematopoiesis and hepato- and splenomegaly?
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What is the genetic basis for the clinical classification of β-thalassemia?
What is the genetic basis for the clinical classification of β-thalassemia?
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Which type of β-thalassemia is characterized by severe anemia but does not require regular blood transfusions?
Which type of β-thalassemia is characterized by severe anemia but does not require regular blood transfusions?
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What is a characteristic morphological change in the peripheral blood smear (PBS) of β-thalassemia major?
What is a characteristic morphological change in the peripheral blood smear (PBS) of β-thalassemia major?
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What is a common complication in β-thalassemia that leads to 'bronze diabetes'?
What is a common complication in β-thalassemia that leads to 'bronze diabetes'?
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What is the cause of α-thalassemia?
What is the cause of α-thalassemia?
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In α-thalassemia, which type of genetic deletion results in the most severe manifestations?
In α-thalassemia, which type of genetic deletion results in the most severe manifestations?
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What type of hemoglobin is predominant in normal adult individuals?
What type of hemoglobin is predominant in normal adult individuals?
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Which type of Hb spectrum (%) is characteristic of sickle cell trait?
Which type of Hb spectrum (%) is characteristic of sickle cell trait?
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What are the predominant types of hemoglobin in sickle cell trait?
What are the predominant types of hemoglobin in sickle cell trait?
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What is the most common manifestation of vaso-occlusion in sickle cell disease?
What is the most common manifestation of vaso-occlusion in sickle cell disease?
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What is the primary cause of death in children with sickle cell disease?
What is the primary cause of death in children with sickle cell disease?
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What does the presence of Howell-Jolly bodies on peripheral blood smear indicate in sickle cell disease?
What does the presence of Howell-Jolly bodies on peripheral blood smear indicate in sickle cell disease?
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What is the common cause of death in adults with sickle cell disease?
What is the common cause of death in adults with sickle cell disease?
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What condition results from the infection of red cell progenitors by parvovirus B19 in sickle cell disease?
What condition results from the infection of red cell progenitors by parvovirus B19 in sickle cell disease?
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Which manifestation in sickle cell disease is characterized by rapid splenic enlargement, hypovolemia, and shock?
Which manifestation in sickle cell disease is characterized by rapid splenic enlargement, hypovolemia, and shock?
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What is the primary cause of chronic anemia in sickle cell anemia?
What is the primary cause of chronic anemia in sickle cell anemia?
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Which type of crisis in sickle cell disease is associated with an acute drop in hemoglobin and high reticulocyte count?
Which type of crisis in sickle cell disease is associated with an acute drop in hemoglobin and high reticulocyte count?
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What is the characteristic bone change seen in individuals with sickle cell anemia?
What is the characteristic bone change seen in individuals with sickle cell anemia?
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"Dactylitis" (hand-foot syndrome) in infants with sickle cell disease is characterized by:
"Dactylitis" (hand-foot syndrome) in infants with sickle cell disease is characterized by:
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What is the primary consequence of deletion of all four α-globin genes?
What is the primary consequence of deletion of all four α-globin genes?
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What is the characteristic morphological change in the peripheral blood smear (PBS) of HbH Disease?
What is the characteristic morphological change in the peripheral blood smear (PBS) of HbH Disease?
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What condition results from a decline in Hb Portland production in Trimester 3?
What condition results from a decline in Hb Portland production in Trimester 3?
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Which manifestation is characteristic of Hb Barts Disease?
Which manifestation is characteristic of Hb Barts Disease?
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What is the clinical presentation of α-Thal: Hb Barts Disease (-/- -/-)?
What is the clinical presentation of α-Thal: Hb Barts Disease (-/- -/-)?
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What does the excess in γ-globin chains lead to in Hb Barts Disease?
What does the excess in γ-globin chains lead to in Hb Barts Disease?
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What is the primary mechanism of anemia in β-thalassemia?
What is the primary mechanism of anemia in β-thalassemia?
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What is the characteristic bone change seen in individuals with sickle cell anemia?
What is the characteristic bone change seen in individuals with sickle cell anemia?
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What is the consequence of deletion of all four α-globin genes?
What is the consequence of deletion of all four α-globin genes?
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Which condition exhibits manifestations similar to β-thalassemia minor?
Which condition exhibits manifestations similar to β-thalassemia minor?
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What is the genetic nature of sickle cell disease?
What is the genetic nature of sickle cell disease?
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What is the clinical behavior of HbSC disease?
What is the clinical behavior of HbSC disease?
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Which type of crisis in sickle cell disease is associated with an acute drop in hemoglobin and high reticulocyte count?
Which type of crisis in sickle cell disease is associated with an acute drop in hemoglobin and high reticulocyte count?
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What is the common cause of death in adults with sickle cell disease?
What is the common cause of death in adults with sickle cell disease?
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Which type of thalassemia is characterized by decreased/absent α-globin chains with excess of β-globin chains?
Which type of thalassemia is characterized by decreased/absent α-globin chains with excess of β-globin chains?
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What is the primary event in the pathogenesis of β-thalassemia?
What is the primary event in the pathogenesis of β-thalassemia?
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What demographic is endemic for thalassemias?
What demographic is endemic for thalassemias?
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Which population is primarily affected by sickle cell disease?
Which population is primarily affected by sickle cell disease?
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Which type of hemoglobin is predominant in normal adult individuals?
Which type of hemoglobin is predominant in normal adult individuals?
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What is the primary cause of chronic anemia in sickle cell anemia?
What is the primary cause of chronic anemia in sickle cell anemia?
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What is the genetic basis for the clinical classification of β-thalassemia?
What is the genetic basis for the clinical classification of β-thalassemia?
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What feature distinguishes HbSC disease from sickle cell anemia (SCA)?
What feature distinguishes HbSC disease from sickle cell anemia (SCA)?
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What is the primary pathophysiological mechanism in β-thalassemia major?
What is the primary pathophysiological mechanism in β-thalassemia major?
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In β-thalassemia, what is the specific consequence of the surplus of β-like chains?
In β-thalassemia, what is the specific consequence of the surplus of β-like chains?
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What is the characteristic phenotype of HbE/HbE homozygotes?
What is the characteristic phenotype of HbE/HbE homozygotes?
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Which type of thalassemia exhibits a mixed process as it changes both the content and amount of protein?
Which type of thalassemia exhibits a mixed process as it changes both the content and amount of protein?
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What is the primary consequence of deletion of all four α-globin genes?
What is the primary consequence of deletion of all four α-globin genes?
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What is the underlying mutation in HbC disease?
What is the underlying mutation in HbC disease?
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What is the characteristic feature seen in HbC disease on peripheral blood smear (PBS)?
What is the characteristic feature seen in HbC disease on peripheral blood smear (PBS)?
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Which condition results from the infection of red cell progenitors by parvovirus B19 in sickle cell disease?
Which condition results from the infection of red cell progenitors by parvovirus B19 in sickle cell disease?
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Study Notes
- The text discusses sickle cell disease (SCD) and associated anemias, with a focus on sickle cell disease, HbC disease, and β- and α-thalassemia.
- Sickle cell disease is a normocytic hemolytic anemia with extravascular hemolysis, affecting African Americans and caused by a point mutation in the β-globin gene (HBB).
- The disease results from the formation of sickle polymers when HbS deoxygenates, leading to sickled RBCs and various complications.
- Sickle cell anemia (homozygosity) presents with severe anemia, irreversible sickled RBCs, and frequent crises, while sickle cell trait (heterozygosity) is usually asymptomatic.
- Enhancing factors for sickling include hypoxia, dehydration, acidosis, and high altitude, while preventive factors include HbF and hydroxyurea.
- Sickle cell disease crises include vaso-occlusive, sequestration, aplastic, and hyperhemolytic, each presenting with distinct clinical features and complications.
- Vaso-occlusive crises result from vaso-occlusion and ischemia caused by sickled RBCs, leading to pain, infarctions, and organ damage.
- Sequestration crisis occurs in children with an intact spleen, resulting in rapid splenic enlargement, hypovolemia, and shock.
- Aplastic crisis is caused by infection of red cell progenitors by parvovirus B19, leading to transient cessation of erythropoiesis and worsening anemia.
- Hyperhemolytic crisis is characterized by an acute drop in hemoglobin and high reticulocyte count, often resulting from infection or other stressors.
- Complications of sickle cell disease include splenic infarcts, infections, and bone changes, as well as damage to various organs.
- Treatments for sickle cell disease include supportive care, hydroxyurea, and bone marrow transplantation, while prevention includes newborn screening, gene therapy, and vaccinations.
- SCD can lead to chronic anemia, jaundice, pigmented gallstones, and reticulocytosis, as well as crises and organ damage if left untreated.
- HbC disease is caused by a different mutation in the β-globin gene, leading to the production of HbC and HbE, which form inclusions in RBCs.
- β- and α-thalassemia are genetic disorders affecting the production of β- or α-globin chains, respectively, leading to various hemoglobin abnormalities and complications.
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Description
Explore the etiology, pathogenesis, morphological changes, clinical presentation, complications, laboratory data, treatment, and prognosis of sickle cell disease. Understand the implications of splenic infarct and Howell-Jolly bodies.
