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Congenital Hemolytic Anemia: Membrane Defects
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Congenital Hemolytic Anemia: Membrane Defects

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Questions and Answers

What type of genetic pattern does hereditary spherocytosis follow?

  • X-linked dominant disorder
  • Autosomal recessive disorder
  • Mitochondrial disorder
  • Autosomal dominant disorder (correct)

    • Which laboratory finding is typically increased in hereditary spherocytosis?

  • Hemoglobin
  • MCV
  • WBC count
  • MCHC (correct)

    • In hereditary spherocytosis, the defect is usually found in which proteins?

  • Collagen or elastin
  • Ankyrin or spectrin (correct)
  • Albumin or ferritin
  • Hemoglobin or myosin

    • What is a common clinical manifestation of hereditary spherocytosis?

    <p>Splenomegaly</p> Signup and view all the answers

    Which test is useful for diagnosing hereditary spherocytosis due to its increased results?

    <p>Osmotic fragility test</p> Signup and view all the answers

    What percentage of RBC are elliptic or oval in hereditary elliptocytosis/ovalocytosis?

    <p>25%</p> Signup and view all the answers

    When might osmotic fragility be increased?

    <p>In patients with overt hemolysis</p> Signup and view all the answers

    What effect does a decreased surface to volume ratio have?

    <p>Increased osmotic fragility</p> Signup and view all the answers

    Which of the following can lead to oxidative damage?

    <p>Abnormal enzyme distribution</p> Signup and view all the answers

    Which test might be used to assess hemolysis?

    <p>Osmotic fragility test</p> Signup and view all the answers

    What condition is associated with G6PD deficiency?

    <p>Penolocytosis</p> Signup and view all the answers

    Which of the following best describes the inheritance pattern of G6PD deficiency?

    <p>X-linked recessive</p> Signup and view all the answers

    What is the primary consequence of G6PD deficiency on red blood cells?

    <p>Increased susceptibility to oxidative damage</p> Signup and view all the answers

    Which of the following oxidative agents should be avoided by individuals with G6PD deficiency?

    <p>Aspirin</p> Signup and view all the answers

    Which of the following laboratory findings is associated with G6PD deficiency?

    <p>Presence of Heinz bodies</p> Signup and view all the answers

    Which of the following foods can trigger hemolysis in individuals with G6PD deficiency?

    <p>Fava beans</p> Signup and view all the answers

    What is the most common global prevalence rate of G6PD deficiency?

    <p>5% - 10%</p> Signup and view all the answers

    Which of the following diagnostic tests can confirm G6PD deficiency?

    <p>Quantitative enzyme assay</p> Signup and view all the answers

    Which type of cell is commonly observed in the peripheral blood smear of a person with G6PD deficiency after oxidative stress?

    <p>Bite cells</p> Signup and view all the answers

    Which of the following symptoms is NOT typically associated with G6PD deficiency hemolytic anemia?

    <p>Rashes</p> Signup and view all the answers

    What laboratory finding is visualized by means of a supravital stain such as crystal violet?

    <p>Heinz bodies</p> Signup and view all the answers

    When is the best time to perform the G6PD enzyme activity assay to avoid false negatives?

    <p>After 4-6 weeks post a hemolytic episode</p> Signup and view all the answers

    What does the confirmatory test for G6PD deficiency involve?

    <p>Quantitative measurement of G6PD enzyme activity</p> Signup and view all the answers

    What causes the formation of fragmented red blood cells in G6PD deficiency hemolytic anemia?

    <p>Multiple peripheral bites</p> Signup and view all the answers

    What screening test is used to assess G6PD enzymatic activity?

    <p>Qualitative assessment of G6PD activity (UV-based test)</p> Signup and view all the answers

    Which of the following is an inherited cause of hemolytic anemia?

    <p>Sickle cell disease</p> Signup and view all the answers

    Which condition is associated with schistocytes on a blood smear?

    <p>Microangiopathic hemolytic anemia</p> Signup and view all the answers

    What is commonly found on a blood smear in patients with hereditary spherocytosis?

    <p>Spherocytes</p> Signup and view all the answers

    Which autoimmune hemolytic anemia is associated with infections such as Mycoplasma?

    <p>Cold AIHA</p> Signup and view all the answers

    Which condition is characterized by defects in membrane skeleton proteins?

    <p>Hereditary spherocytosis</p> Signup and view all the answers

    Which laboratory finding is common in acute hemolytic anemia?

    <p>Leukocytosis</p> Signup and view all the answers

    Which enzyme defect causes hemolytic anemia and is X-linked?

    <p>G6PD deficiency</p> Signup and view all the answers

    Which of the following is a cause of non-immune-mediated hemolytic anemia?

    <p>Microangiopathic hemolytic anemia</p> Signup and view all the answers

    Which test is used as a confirmatory test for G6PD deficiency?

    <p>Quantitative measurement of G6PD enzymatic activity</p> Signup and view all the answers

    What is the definitive test for diagnosing pyruvate kinase deficiency?

    <p>PK enzyme assay</p> Signup and view all the answers

    What molecular change is involved in pyruvate kinase deficiency?

    <p>Conversion of PEP to pyruvate is impaired</p> Signup and view all the answers

    Which laboratory feature is common in pyruvate kinase deficiency?

    <p>Marked reduction in hemoglobin</p> Signup and view all the answers

    What role does pyruvate kinase play in red blood cells?

    <p>Converting PEP to pyruvate and generating ATP</p> Signup and view all the answers

    Which of the following conditions is NOT caused by hemoglobin disorders?

    <p>Hereditary spherocytosis</p> Signup and view all the answers

    How many oxygen molecules can one hemoglobin (Hb) molecule bind?

    <p>Four</p> Signup and view all the answers

    Which hemoglobin is composed of two alpha and two gamma chains?

    <p>Fetal hemoglobin (HbF)</p> Signup and view all the answers

    What causes qualitative hemoglobinopathies?

    <p>Point mutation</p> Signup and view all the answers

    Which condition is an example of a quantitative abnormality in globin chain production?

    <p>Alpha thalassemia</p> Signup and view all the answers

    What is the cause of reduced or no production of globin chains in thalassemias?

    <p>Point or deletional mutation</p> Signup and view all the answers

    Which of the following is not a type of embryonic hemoglobin?

    <p>HbA</p> Signup and view all the answers

    Which of the following clinical features is commonly associated with sickle cell disease?

    <p>Visual blurring</p> Signup and view all the answers

    What is a characteristic finding in the peripheral blood smear of a patient with sickle cell disease?

    <p>Sickle cells</p> Signup and view all the answers

    What is the average reticulocyte count typically seen in sickle cell disease?

    <p>5-20%</p> Signup and view all the answers

    Which test is considered definitive for demonstrating Hb S in sickle cell disease?

    <p>Hemoglobin electrophoresis or HPLC</p> Signup and view all the answers

    Which of the following is NOT a usual finding in the bone marrow of a patient with sickle cell disease except during aplastic crisis?

    <p>Myeloid hyperplasia</p> Signup and view all the answers

    Which screening test for sickle cell disease uses special reagents that precipitate the abnormal Hb S?

    <p>Solubility test</p> Signup and view all the answers

    What is a common hematological finding in patients with sickle cell disease?

    <p>Normocytic normochromic anemia</p> Signup and view all the answers

    In sickle cell trait, what is usually seen on the peripheral blood smear?

    <p>Target cells</p> Signup and view all the answers

    Which amino acid replaces normal glutamic acid in Hemoglobin S at the 6th position of the β chain?

    <p>Valine</p> Signup and view all the answers

    What is the inheritance pattern of sickle cell disease?

    <p>Autosomal recessive</p> Signup and view all the answers

    What is a common complication in people with sickle cell trait?

    <p>Hematuria</p> Signup and view all the answers

    Which factor does NOT favor sickling of erythrocytes in sickle cell disease?

    <p>High oxygen concentration</p> Signup and view all the answers

    Which type of crisis involves an increase in blood viscosity in sickle cell disease?

    <p>Vaso-occlusive crisis</p> Signup and view all the answers

    What is the average life span of someone with sickle cell disease?

    <p>40 years</p> Signup and view all the answers

    If one parent has sickle cell anemia and the other parent is normal, what genetic condition will the children most likely have?

    <p>Sickle cell trait</p> Signup and view all the answers

    Which of these is NOT a result of the abnormal hemoglobin S in sickle cell disease?

    <p>Increased stability</p> Signup and view all the answers

    Which condition is described as an autosomal recessive disorder?

    <p>Sickle Cell Anemia</p> Signup and view all the answers

    Which factor promotes the sickling of red blood cells in individuals with Sickle Cell Anemia?

    <p>Dehydration</p> Signup and view all the answers

    What is a characteristic of a hemolytic crisis in Sickle Cell Anemia?

    <p>Accelerated drop in Hb levels</p> Signup and view all the answers

    Which infectious agent is the major cause of infectious crises among children with Sickle Cell Anemia?

    <p>Streptococcus pneumoniae</p> Signup and view all the answers

    Which crisis type in Sickle Cell Anemia is caused by Parvovirus B19?

    <p>Aplastic crises</p> Signup and view all the answers

    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.

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