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</p> Signup and view all the answers

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    <p>It is a carrier state</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.</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</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</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</p> Signup and view all the answers

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

    <p>One-gene deletion</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 (ɣ4)</p> Signup and view all the answers

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

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

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

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

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

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

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

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

    What is the treatment for sideroblastic anaemia?

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

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

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

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

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

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