Haemoglobinopathies

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Questions and Answers

Which type of anaemia is caused by abnormal synthesis of haem?

  • Sickle cell anaemia
  • Sideroblastic anaemia (correct)
  • Haemoglobinopathies
  • Thalassaemia

Which type of anaemia is caused by abnormal synthesis of globin?

  • Hereditary spherocytosis
  • G6-PDH deficiency
  • Sideroblastic anaemia
  • Thalassaemia (correct)

Which type of anaemia is characterized by abnormal haemoglobin structure?

  • Sideroblastic anaemia
  • Haemoglobinopathies
  • Sickle cell anaemia (correct)
  • Thalassaemia

Which type of hemoglobin is present in higher levels in the fetus compared to adults?

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

Which type of thalassemia is more common in the Mediterranean region?

<p>Beta-thalassemia (A)</p> Signup and view all the answers

What is the primary cause of abnormal β chain production in β-thalassemia?

<p>Point mutations in chromosome 11 (A)</p> Signup and view all the answers

Which type of anaemia is also known as Cooley's anemia?

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

Which of the following manifestations are seen in the first year of life in Thalassaemia major?

<p>Recurrent bacterial infection (A)</p> Signup and view all the answers

Which imaging finding is associated with extramedullary haemopoiesis in Thalassaemia major?

<p>Hair on end appearance (A)</p> Signup and view all the answers

Which of the following is a characteristic feature of Thalassaemia major?

<p>Chipmunk's facie (A)</p> Signup and view all the answers

Which hemoglobin component is increased in Thalassaemia major after 12 months of life?

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

Which of the following manifestations is NOT seen in first year of life of Thalassaemia major?

<p>Delayed growth and development (A)</p> Signup and view all the answers

Which of the following features are characteristic of Chipmunk Facie in Thalassaemia major?

<p>Depressed fracture of the nasal bone and frontal bossing (C)</p> Signup and view all the answers

Which of the following laboratory findings is consistent with Thalassaemia major?

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

hich of the following terms describes the type of anemia observed in Thalassaemia major?

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

Which of the following interventions is considered a potential curative treatment for Thalassaemia major?

<p>Bone marrow transplantation (C)</p> Signup and view all the answers

Which of the following laboratory findings is consistent with Thalassaemia major?

<p>Increased HbA2 (B)</p> Signup and view all the answers

Which of the following features is characteristic of Chipmunk Facie in Thalassaemia major?

<p>All of the above (D)</p> Signup and view all the answers

Which of the following statements is true about Thalassaemia intermedia?

<p>It is caused by a combination of mild homozygous B- and a-thalassaemia (C)</p> Signup and view all the answers

Which of the following is a characteristic feature of Thalassaemia trait?

<p>It is a carrier state (C)</p> Signup and view all the answers

Which of the following statements is true regarding α-Thalassaemia?

<p>It is commonly found in the Far East region. (D)</p> Signup and view all the answers

Which type of α-thalassaemia is characterized by the absence of alpha chain synthesis resulting in the production of only gamma chains?

<p>Four-gene deletion (D)</p> Signup and view all the answers

Which type of thalassaemia is associated with moderate anaemia, splenomegaly, and microcytosis on blood film examination?

<p>Hb H (β4) disease (C)</p> Signup and view all the answers

Which type of thalassaemia may or may not have anaemia, but shows microcytosis on blood film examination?

<p>Two-gene deletion (B)</p> Signup and view all the answers

Which type of thalassaemia is asymptomatic and shows normal blood picture and electrophoresis?

<p>One-gene deletion (A)</p> Signup and view all the answers

Which type of thalassaemia is associated with non-functional hemoglobin, resulting in death in utero or shortly after birth?

<p>Hb Barts (É£4) (C)</p> Signup and view all the answers

Which of the following is a clinical syndrome of sickle cell disease?

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

Which of the following is a characteristic feature of sickle cell trait?

<p>Normal blood picture (C)</p> Signup and view all the answers

Sickle Cell Anaemia is primarily caused by:

<p>Point mutation in the gene that codes for β-globin chain (C)</p> Signup and view all the answers

Which laboratory test is used as a screening method for sickle cell disease?

<p>Sickle solubility test (D)</p> Signup and view all the answers

What is the recommended prophylaxis for sickle cell disease from diagnosis to puberty?

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

Which of the following is the primary cause of sideroblastic anaemia?

<p>Mutation in ɣ-aminolevulenic acid (ALA) synthase (C)</p> Signup and view all the answers

What is the treatment for sideroblastic anaemia?

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

Which type of sideroblastic anaemia is responsive to thiamine and pyridoxal phosphate?

<p>Hereditary X-linked (B)</p> Signup and view all the answers

Which of the following is NOT a cause of secondary sideroblastic anaemia?

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

What is the characteristic feature of abnormal erythroblasts in sideroblastic anaemia?

<p>Ring of iron granules around their nuclei (D)</p> Signup and view all the answers

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