Thalassemia Types and Mutated Genes Quiz

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Questions and Answers

Which condition is associated with the presence of four defective alleles?

  • Thalassemia Type Alpha-thalassemia trait
  • Hemoglobin Bart's disease (correct)
  • Hemoglobin H disease
  • Silent carrier Alpha thalassemia

What is a characteristic clinical feature of Beta-thalassemia major?

  • No anemia
  • Low risk of hemolysis
  • Prominent zygomatic bones
  • Growth retardation (correct)

Which type of thalassemia can present with hepatosplenomegaly?

  • Beta-thalassemia minor
  • Beta-thalassemia major (correct)
  • Sickle cell beta thalassemia
  • Alpha-thalassemia trait

What is the characteristic of Silent carrier Alpha thalassemia?

<p>Consists of four γ-chains (γ-tetramers) (A)</p> Signup and view all the answers

Which condition is a combination of one defective β-globin allele and one defective HbS allele?

<p>Sickle cell beta thalassemia (C)</p> Signup and view all the answers

Which genetic condition is characterized by severe hepatosplenomegaly, intrauterine ascites, and hydrops fetalis, making it incompatible with life?

<p>Hb-Bart's hydrops fetalis syndrome (B)</p> Signup and view all the answers

Which diagnostic finding helps differentiate between thalassemia and iron deficiency anemia?

<p>Mentzer index (A)</p> Signup and view all the answers

What finding on peripheral blood smear is characteristic of thalassemia?

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

Which test is used for qualitative and quantitative analysis of hemoglobin variants?

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

What is the characteristic skull x-ray finding in patients with craniofacial abnormalities due to thalassemia?

<p>&quot;Chipmunk facies&quot; with a &quot;hair-on-end&quot; appearance (A)</p> Signup and view all the answers

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