Genetics: Sickle Cell Gene Defect
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Questions and Answers

What is the result of the interaction between the mutation of the beta-globin gene that causes HbS and the mutation of the beta-globin gene that causes HbE?

  • HbF/HbA syndrome
  • HbS/HbC syndrome
  • HbS/β-thalassemia syndrome
  • HbS/HbE syndrome (correct)
  • What is HbS/hereditary persistence of fetal Hb (S/HPFH)?

  • A type of kidney disease
  • A rare combination of HbS with other abnormal hemoglobins
  • A type of hemoglobinopathy
  • A hereditary condition associated with high levels of fetal hemoglobin (correct)
  • What are the rare combinations of HbS with other abnormal hemoglobins?

  • HbS/HbE, HbS/HbC, HbS/β-thalassemia
  • HbS/α-thalassemia, HbS/β-thalassemia, HbS/HbF
  • HbS/HbE, HbF/HbA, HbS/HPFH
  • HbS/HbD, HbS/HbG, HbS/HbLepore (correct)
  • What is the genetic disorder that is characterized by the inability to metabolize the amino acid phenylalanine?

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

    What is a type of hemolytic anemia triggered by eating fava beans?

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

    What is the amino acid associated with a genetic disorder?

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

    What type of anemia is triggered by eating fava beans?

    <p>Hemolytic anemia</p> Signup and view all the answers

    Which of the following is not a combination of HbS with other abnormal hemoglobins?

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

    What is the root cause of phenylketonuria?

    <p>Inability to metabolize phenylalanine</p> Signup and view all the answers

    What is the relationship between favism and HbS?

    <p>Favism and HbS are unrelated genetic disorders</p> Signup and view all the answers

    Study Notes

    Sickle Cell Gene Defect

    • A single nucleotide mutation causes the substitution of glutamic acid (E/Glu) with valine (V/Val)
    • This mutation leads to monogenic disorders, which are the most common worldwide
    • Mutations affecting hemoglobin can result in:
      • Reduced synthesis, leading to thalassemia
      • Altered structure, leading to sickle cell disorders
    • Specific combinations of hemoglobin mutations include:
      • HbS/hereditary persistence of fetal Hb (S/HPFH)
      • HbS/HbE syndrome
      • Rare combinations of HbS with other abnormal hemoglobins

    Sickle Cell Gene Defect

    • A single nucleotide mutation causes the substitution of glutamic acid (E/Glu) with valine (V/Val)
    • This mutation leads to monogenic disorders, which are the most common worldwide
    • Mutations affecting hemoglobin can result in:
      • Reduced synthesis, leading to thalassemia
      • Altered structure, leading to sickle cell disorders
    • Specific combinations of hemoglobin mutations include:
      • HbS/hereditary persistence of fetal Hb (S/HPFH)
      • HbS/HbE syndrome
      • Rare combinations of HbS with other abnormal hemoglobins

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    Description

    This quiz covers the genetic mutation causing sickle cell disease, where a single nucleotide substitution leads to a change from glutamic acid to valine.

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