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 (B)</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 (B)</p> Signup and view all the answers

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

<p>Thalassaemia (D)</p> Signup and view all the answers

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

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

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

<p>Dehydration (C)</p> Signup and view all the answers

Which type of anaemia is present in beta thalassaemia major?

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

What is the primary management strategy for G6PD deficiency?

<p>Avoidance of certain medications and foods (C)</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 (D)</p> Signup and view all the answers

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

<p>G6PD Deficiency (C)</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 (B)</p> Signup and view all the answers

What triggers hemolysis in G6PD Deficiency?

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

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

<p>Kidney (B)</p> Signup and view all the answers

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

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

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

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

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

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

What happens in G6PD Deficiency when triggered by oxidative stress?

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

Which drug can trigger hemolysis in individuals with G6PD Deficiency?

<p>Antimalarials (B)</p> Signup and view all the answers

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

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

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