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Questions and Answers
What type of genetic pattern does hereditary spherocytosis follow?
What type of genetic pattern does hereditary spherocytosis follow?
Which laboratory finding is typically increased in hereditary spherocytosis?
Which laboratory finding is typically increased in hereditary spherocytosis?
In hereditary spherocytosis, the defect is usually found in which proteins?
In hereditary spherocytosis, the defect is usually found in which proteins?
What is a common clinical manifestation of hereditary spherocytosis?
What is a common clinical manifestation of hereditary spherocytosis?
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Which test is useful for diagnosing hereditary spherocytosis due to its increased results?
Which test is useful for diagnosing hereditary spherocytosis due to its increased results?
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What percentage of RBC are elliptic or oval in hereditary elliptocytosis/ovalocytosis?
What percentage of RBC are elliptic or oval in hereditary elliptocytosis/ovalocytosis?
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When might osmotic fragility be increased?
When might osmotic fragility be increased?
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What effect does a decreased surface to volume ratio have?
What effect does a decreased surface to volume ratio have?
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Which of the following can lead to oxidative damage?
Which of the following can lead to oxidative damage?
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Which test might be used to assess hemolysis?
Which test might be used to assess hemolysis?
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What condition is associated with G6PD deficiency?
What condition is associated with G6PD deficiency?
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Which of the following best describes the inheritance pattern of G6PD deficiency?
Which of the following best describes the inheritance pattern of G6PD deficiency?
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What is the primary consequence of G6PD deficiency on red blood cells?
What is the primary consequence of G6PD deficiency on red blood cells?
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Which of the following oxidative agents should be avoided by individuals with G6PD deficiency?
Which of the following oxidative agents should be avoided by individuals with G6PD deficiency?
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Which of the following laboratory findings is associated with G6PD deficiency?
Which of the following laboratory findings is associated with G6PD deficiency?
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Which of the following foods can trigger hemolysis in individuals with G6PD deficiency?
Which of the following foods can trigger hemolysis in individuals with G6PD deficiency?
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What is the most common global prevalence rate of G6PD deficiency?
What is the most common global prevalence rate of G6PD deficiency?
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Which of the following diagnostic tests can confirm G6PD deficiency?
Which of the following diagnostic tests can confirm G6PD deficiency?
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Which type of cell is commonly observed in the peripheral blood smear of a person with G6PD deficiency after oxidative stress?
Which type of cell is commonly observed in the peripheral blood smear of a person with G6PD deficiency after oxidative stress?
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Which of the following symptoms is NOT typically associated with G6PD deficiency hemolytic anemia?
Which of the following symptoms is NOT typically associated with G6PD deficiency hemolytic anemia?
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What laboratory finding is visualized by means of a supravital stain such as crystal violet?
What laboratory finding is visualized by means of a supravital stain such as crystal violet?
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When is the best time to perform the G6PD enzyme activity assay to avoid false negatives?
When is the best time to perform the G6PD enzyme activity assay to avoid false negatives?
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What does the confirmatory test for G6PD deficiency involve?
What does the confirmatory test for G6PD deficiency involve?
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What causes the formation of fragmented red blood cells in G6PD deficiency hemolytic anemia?
What causes the formation of fragmented red blood cells in G6PD deficiency hemolytic anemia?
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What screening test is used to assess G6PD enzymatic activity?
What screening test is used to assess G6PD enzymatic activity?
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Which of the following is an inherited cause of hemolytic anemia?
Which of the following is an inherited cause of hemolytic anemia?
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Which condition is associated with schistocytes on a blood smear?
Which condition is associated with schistocytes on a blood smear?
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What is commonly found on a blood smear in patients with hereditary spherocytosis?
What is commonly found on a blood smear in patients with hereditary spherocytosis?
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Which autoimmune hemolytic anemia is associated with infections such as Mycoplasma?
Which autoimmune hemolytic anemia is associated with infections such as Mycoplasma?
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Which condition is characterized by defects in membrane skeleton proteins?
Which condition is characterized by defects in membrane skeleton proteins?
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Which laboratory finding is common in acute hemolytic anemia?
Which laboratory finding is common in acute hemolytic anemia?
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Which enzyme defect causes hemolytic anemia and is X-linked?
Which enzyme defect causes hemolytic anemia and is X-linked?
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Which of the following is a cause of non-immune-mediated hemolytic anemia?
Which of the following is a cause of non-immune-mediated hemolytic anemia?
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Which test is used as a confirmatory test for G6PD deficiency?
Which test is used as a confirmatory test for G6PD deficiency?
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What is the definitive test for diagnosing pyruvate kinase deficiency?
What is the definitive test for diagnosing pyruvate kinase deficiency?
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What molecular change is involved in pyruvate kinase deficiency?
What molecular change is involved in pyruvate kinase deficiency?
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Which laboratory feature is common in pyruvate kinase deficiency?
Which laboratory feature is common in pyruvate kinase deficiency?
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What role does pyruvate kinase play in red blood cells?
What role does pyruvate kinase play in red blood cells?
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Which of the following conditions is NOT caused by hemoglobin disorders?
Which of the following conditions is NOT caused by hemoglobin disorders?
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How many oxygen molecules can one hemoglobin (Hb) molecule bind?
How many oxygen molecules can one hemoglobin (Hb) molecule bind?
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Which hemoglobin is composed of two alpha and two gamma chains?
Which hemoglobin is composed of two alpha and two gamma chains?
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What causes qualitative hemoglobinopathies?
What causes qualitative hemoglobinopathies?
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Which condition is an example of a quantitative abnormality in globin chain production?
Which condition is an example of a quantitative abnormality in globin chain production?
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What is the cause of reduced or no production of globin chains in thalassemias?
What is the cause of reduced or no production of globin chains in thalassemias?
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Which of the following is not a type of embryonic hemoglobin?
Which of the following is not a type of embryonic hemoglobin?
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Which of the following clinical features is commonly associated with sickle cell disease?
Which of the following clinical features is commonly associated with sickle cell disease?
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What is a characteristic finding in the peripheral blood smear of a patient with sickle cell disease?
What is a characteristic finding in the peripheral blood smear of a patient with sickle cell disease?
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What is the average reticulocyte count typically seen in sickle cell disease?
What is the average reticulocyte count typically seen in sickle cell disease?
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Which test is considered definitive for demonstrating Hb S in sickle cell disease?
Which test is considered definitive for demonstrating Hb S in sickle cell disease?
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Which of the following is NOT a usual finding in the bone marrow of a patient with sickle cell disease except during aplastic crisis?
Which of the following is NOT a usual finding in the bone marrow of a patient with sickle cell disease except during aplastic crisis?
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Which screening test for sickle cell disease uses special reagents that precipitate the abnormal Hb S?
Which screening test for sickle cell disease uses special reagents that precipitate the abnormal Hb S?
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What is a common hematological finding in patients with sickle cell disease?
What is a common hematological finding in patients with sickle cell disease?
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In sickle cell trait, what is usually seen on the peripheral blood smear?
In sickle cell trait, what is usually seen on the peripheral blood smear?
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Which amino acid replaces normal glutamic acid in Hemoglobin S at the 6th position of the β chain?
Which amino acid replaces normal glutamic acid in Hemoglobin S at the 6th position of the β chain?
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What is the inheritance pattern of sickle cell disease?
What is the inheritance pattern of sickle cell disease?
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What is a common complication in people with sickle cell trait?
What is a common complication in people with sickle cell trait?
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Which factor does NOT favor sickling of erythrocytes in sickle cell disease?
Which factor does NOT favor sickling of erythrocytes in sickle cell disease?
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Which type of crisis involves an increase in blood viscosity in sickle cell disease?
Which type of crisis involves an increase in blood viscosity in sickle cell disease?
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What is the average life span of someone with sickle cell disease?
What is the average life span of someone with sickle cell disease?
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If one parent has sickle cell anemia and the other parent is normal, what genetic condition will the children most likely have?
If one parent has sickle cell anemia and the other parent is normal, what genetic condition will the children most likely have?
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Which of these is NOT a result of the abnormal hemoglobin S in sickle cell disease?
Which of these is NOT a result of the abnormal hemoglobin S in sickle cell disease?
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Which condition is described as an autosomal recessive disorder?
Which condition is described as an autosomal recessive disorder?
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Which factor promotes the sickling of red blood cells in individuals with Sickle Cell Anemia?
Which factor promotes the sickling of red blood cells in individuals with Sickle Cell Anemia?
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What is a characteristic of a hemolytic crisis in Sickle Cell Anemia?
What is a characteristic of a hemolytic crisis in Sickle Cell Anemia?
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Which infectious agent is the major cause of infectious crises among children with Sickle Cell Anemia?
Which infectious agent is the major cause of infectious crises among children with Sickle Cell Anemia?
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Which crisis type in Sickle Cell Anemia is caused by Parvovirus B19?
Which crisis type in Sickle Cell Anemia is caused by Parvovirus B19?
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Study Notes
Congenital Hemolytic Anemia - Membrane Defects
-
Hereditary Spherocytosis
- Defect in proteins of the membrane skeleton, usually ankyrin or spectrin
- Red cell membrane is pinched off in the spleen, causing decreased MCV and spherocytic change
- Autosomal dominant disorder
-
Clinical Manifestations
- Symptoms of anemia
- Splenomegaly is very common
- Jaundice which may be intermittent
- Pigmented gallstones are common
- Chronic leg ulcers
-
Laboratory Findings
- Anemia: usually mild or moderate
- MCV: usually normal or slightly decreased
- MCHC: increased
- Laboratory evidence of hemolysis
- PB: spherocytes are usually detected as small red cells without central pallor
- Osmotic fragility test: increased fragility
-
Hereditary Elliptocytosis/Ovalocytosis
- Autosomal dominant trait
- Mild anemia (Hb>12gm/dL)
- At least 25% and, more commonly, >75% of RBC are elliptic or oval
- Osmotic fragility is usually normal but may be increased in patients with overt hemolysis
- Decreased surface to volume ratio
- Oxidative damage
- Depletion of enzymes
Congenital Hemolytic Anemias - Enzyme Defects - G6PD
-
Deficiency
- Inherited as X-linked recessive character
- G6PD deficiency results in low levels of NADPH and reduced glutathione, which are required to protect hemoglobin from oxidative damage
- Oxidative agents to avoid: Primaquine, Aspirin, Quinolones, Sulfa drugs, Dapsone, Vitamin K, Fava beans
-
Epidemiology
- G6PD deficiency is the most prevalent red cell enzymes deficiency in the world (prevalence about 5 - 10%)
- Coincides with the geographic distribution of endemic malaria
-
Clinical Features
- Most people with G6PD deficiency have no symptoms and are not anemic
- The disease only manifests when the red cells undergo oxidative stress
- Anemia is maximal 7-10 d after exposure
- Urine becomes dark (hemoglobinuria) associated with low back and abdominal pain
-
Laboratory Findings
- Laboratory evidence of hemolysis
- Rise in bilirubin
- Heinz bodies are present
- "Bite Cells" and "Blister Cells" are present
- Increased reticulocyte count
- Diagnosis of G6PD deficiency
- Diagnosis is usually clinical
- Screening for G6PD deficiency is a routine blood test
- Confirmatory tests can be done: Fluorescence spot test, Quantitative enzyme assay
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Description
This quiz covers the concepts of Congenital Hemolytic Anemia, focusing on Membrane Defects, particularly Hereditary Spherocytosis. It discusses the genetic defects, clinical manifestations, and symptoms of the disorder.
