Haematopathology: Understanding Thalassemia
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Questions and Answers

What is the most common type of normal hemoglobin?

  • Hb A: α2 γ2
  • Hb A: α2 β2 (correct)
  • Hb F: α2 β2
  • Hb F: α2 γ2
  • What is the characteristic feature of a normal blood film in thalassemia minor?

  • Macrocytosis and spherocytes
  • Elliptocytes and schistocytes
  • Slight hypochromia and anisocytosis (correct)
  • Polychromasia and basophilic stippling
  • What is the diagnostic test for beta-thalassemia minor based on?

  • Decreased serum iron levels
  • Decreased Hb A2 levels
  • Increased Hb A2 levels (correct)
  • Increased Hb F levels
  • What is the structure of fetal hemoglobin (Hb F)?

    <p>α2 γ2</p> Signup and view all the answers

    What is the expected reticulocyte count in cases of Hb F present in 85% of cases?

    <p>Slightly increased or normal reticulocyte count</p> Signup and view all the answers

    What is the normal range of Hb A2, and how is it altered in beta-thalassemia minor?

    <p>Normal range 1.8-3.5%, decreased in beta-thalassemia minor</p> Signup and view all the answers

    What is the clinical significance of Alpha thalassemias compared to Beta thalassemia?

    <p>They are of much less clinical significance</p> Signup and view all the answers

    What is the clinical phenotype of Alpha thalassemia with no alpha genes (α o α o)?

    <p>Incompatible with life</p> Signup and view all the answers

    Which region is Hemoglobin H disease common in?

    <p>Southeast Asia</p> Signup and view all the answers

    What is the only clinical phenotype of alpha thalassemia of clinical significance?

    <p>Hemoglobin H disease</p> Signup and view all the answers

    What is the clinical feature most unusual to see in individuals with Hemoglobin H disease?

    <p>Severe thalassemic skeletal changes</p> Signup and view all the answers

    What is the blood picture and clinical presentation of Thalassaemia Intermedia?

    <p>Wide clinical spectrum, unlike TM, which presents with severe anaemia requiring frequent blood transfusions</p> Signup and view all the answers

    What is the first step recommended for Thalassaemia prevention?

    <p>Premarital Screen</p> Signup and view all the answers

    What follows the identification of couples at risk of bearing affected children through premarital screening?

    <p>Estimation of HbA2 and HbF levels, in addition to sickling test</p> Signup and view all the answers

    Study Notes

    Hemoglobin

    • The most common type of normal hemoglobin is Hb A.

    Thalassemia Minor

    • A normal blood film in thalassemia minor is characterized by microcytic hypochromic red blood cells.
    • The diagnostic test for beta-thalassemia minor is based on elevated levels of Hb A2.

    Fetal Hemoglobin (Hb F)

    • The structure of fetal hemoglobin (Hb F) is α2γ2.
    • In cases where Hb F is present in 85% of cases, the expected reticulocyte count is low.

    Hemoglobin A2 (Hb A2)

    • The normal range of Hb A2 is 2-3.5%.
    • In beta-thalassemia minor, the level of Hb A2 is increased.

    Alpha Thalassemias vs Beta Thalassemia

    • Alpha thalassemias are generally less severe than Beta thalassemia clinically.

    Alpha Thalassemia

    • In individuals with Alpha thalassemia with no alpha genes (α o α o), the clinical phenotype is hydrops fetalis, which is usually lethal.
    • Hemoglobin H disease is common in Southeast Asia.
    • The only clinical phenotype of alpha thalassemia of clinical significance is Hemoglobin H disease.
    • In individuals with Hemoglobin H disease, the clinical feature most unusual to see is a high reticulocyte count.

    Thalassemia Intermedia

    • The blood picture and clinical presentation of Thalassaemia Intermedia include moderate to severe anemia, jaundice, and splenomegaly.

    Thalassaemia Prevention

    • The first step recommended for Thalassaemia prevention is premarital screening.
    • Following the identification of couples at risk of bearing affected children through premarital screening, genetic counseling and testing are recommended.

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    Thalassaemia Integrative 3 PDF

    Description

    This quiz covers the structure and function of Hb, pathophysiology of thalassemia, different phenotypes, genetic mutations, and laboratory diagnosis. It is designed to enhance understanding of thalassemia for medical students and professionals.

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