Red Cell Physiology and Congenital Anaemias Quiz
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Questions and Answers

Which type of inheritance pattern is associated with sickle cell disease?

  • Autosomal recessive (correct)
  • X-linked dominant
  • Y-linked
  • Autosomal dominant
  • What is the composition of sickle haemoglobin (HbS)?

  • Alpha-2 α chains
  • Alpha-2 β (sickle) chains (correct)
  • Beta Point mutation
  • Gamma Delta BetaS
  • Which term describes individuals who are carriers of sickle cell disease but are asymptomatic?

  • HbAS (correct)
  • HbSS
  • HbAA
  • HbAS (correct)
  • What triggers the pathophysiology of sickle cell disease?

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

    What is the chance of having an affected child if both parents are carriers of sickle cell disease?

    <p>1 in 4 chance</p> Signup and view all the answers

    Which condition is characterized by a reduced or absent production of globin chains?

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

    What is the main consequence of homozygous alpha zero thalassaemia (α0/α0)?

    <p>Hydrops Fetalis</p> Signup and view all the answers

    Which of the following events can trigger a sickle crisis in sickle cell disease?

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

    Which type of anaemia is present in beta thalassaemia major?

    <p>Transfusion-dependent anaemia</p> Signup and view all the answers

    What is the primary management strategy for G6PD deficiency?

    <p>Avoidance of certain medications and foods</p> Signup and view all the answers

    In which condition should hydration, oxygenation, and prompt treatment of infection be part of the management?

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

    What is the most common disease causing enzymopathy in the world?

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

    Which enzyme deficiency leads to increased rigidity of red blood cells and variable severity of symptoms?

    <p>Pyruvate Kinase Deficiency</p> Signup and view all the answers

    What triggers hemolysis in G6PD Deficiency?

    <p>Oxidative stress</p> Signup and view all the answers

    In which part of the body is Erythropoietin synthesized in response to hypoxia?

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

    Which type of hemoglobin has a higher oxygen affinity than HbA?

    <p>Hb F</p> Signup and view all the answers

    What is the normal percentage of Hemoglobin F found in adults?

    <p>1%</p> Signup and view all the answers

    Which condition results from mutations leading to structurally abnormal globin chains?

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

    What happens in G6PD Deficiency when triggered by oxidative stress?

    <p>Scavenging and detoxifying reactive oxygen species</p> Signup and view all the answers

    Which drug can trigger hemolysis in individuals with G6PD Deficiency?

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

    What role does Hemoglobin play in gas exchange within the body?

    <p>Transporting CO2 to tissues</p> Signup and view all the answers

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