Thalassemia & Hemoglobinopathies Lecture 6
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Questions and Answers

What is the main cause of thalassemia?

  • Excessive production of red blood cells
  • Abnormality in the rate of synthesis of globin chain (correct)
  • Insufficient iron in the body
  • Abnormality in the rate of synthesis of hemoglobin
  • What is the molecular basis of thalassemia?

  • Improper DNA replication
  • Proper translation into protein
  • Inefficient transcription of gene into mRNA (correct)
  • Efficient transcription of gene into mRNA
  • Which type of thalassemia is associated with mutations in genes on chromosome 11?

  • Beta-thalassemia (correct)
  • Minor thalassemia
  • Alpha-thalassemia
  • Hb E; Southeast Asia
  • Which population is more commonly affected by Alpha-Thal & Hb E type thalassemia?

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

    How many types of protein chains does hemoglobin have, leading to two types of thalassemia?

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

    What characterizes the anemia caused by thalassemia?

    <p>Mild or severe anemia due to reduced hemoglobin and red blood cells</p> Signup and view all the answers

    Which type of thalassemia is characterized by infants appearing normal at birth but developing anemia and splenomegaly by the end of their first year?

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

    What is the condition in which there is deletion of a single gene and no manifestation of hemoglobinopathy?

    <p>Silent Carrier</p> Signup and view all the answers

    Which type of thalassemia is characterized by an imbalance between alpha and beta chains leading to excess gamma globin chains in fetus and newborn?

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

    What causes skeletal deformities like bossing of skull and maxillary prominence in Beta Thalassemia major?

    <p>Expansion of bone marrow</p> Signup and view all the answers

    In which condition do children and adults have an excess of beta globin chains leading to the formation of tetrad (β4) resulting in ineffective oxygen carrying?

    <p>Hb H Disease</p> Signup and view all the answers

    What is the term for the inheritance of two mutated beta genes in Beta Thalassemia major?

    <p>Gross hepatosplenomegaly</p> Signup and view all the answers

    Which type of thalassemia encompasses all cases with significant symptoms but do not require regular transfusion?

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

    What is the term for the condition in which there is an excess of beta globin chains forming tetrad (β4) leading to ineffective oxygen carrying?

    <p>Hb H Disease</p> Signup and view all the answers

    Which type of thalassemia is characterized by deletion of a single gene with no manifestation of hemoglobinopathy?

    <p>Silent Carrier</p> Signup and view all the answers

    What are the lab and clinical features that mirror those of severe phenotype in Beta Thalassemia Intermedia?

    <p>Excess beta globin chains formation</p> Signup and view all the answers

    Study Notes

    Thalassemia

    • Main cause of thalassemia: mutations in genes responsible for hemoglobin production
    • Molecular basis of thalassemia: mutations in alpha or beta globin genes leading to abnormal hemoglobin production

    Alpha-Thalassemia

    • Associated with mutations in genes on chromosome 16
    • More common in Southeast Asian and African populations
    • Characterized by deletion of one or more alpha globin genes

    Beta-Thalassemia

    • Associated with mutations in genes on chromosome 11
    • More common in Mediterranean and Middle Eastern populations
    • Characterized by an imbalance between alpha and beta chains

    Types of Thalassemia

    • Alpha-Thalassemia: 2 protein chains (alpha and alpha)
    • Beta-Thalassemia: 2 protein chains (alpha and beta)
    • Hemoglobin has 2 alpha and 2 beta protein chains

    Characteristics of Thalassemia

    • Anemia: characterized by microcytic and hypochromic red blood cells
    • Beta-Thalassemia Major: infants appear normal at birth, but develop anemia and splenomegaly by the end of their first year
    • Alpha-Thalassemia: deletion of a single gene, no manifestation of hemoglobinopathy (Silent Carrier)

    Beta-Thalassemia Major

    • Skeletal deformities: bossing of skull and maxillary prominence due to expansion of bone marrow
    • Homozygous beta-thalassemia: inheritance of two mutated beta genes

    Beta-Thalassemia Intermedia

    • Characterized by an excess of beta globin chains leading to the formation of tetrad (β4) resulting in ineffective oxygen carrying
    • Lab and clinical features: mirror those of severe phenotype

    Other Types of Thalassemia

    • Beta-Thalassemia Minor: encompasses all cases with significant symptoms but do not require regular transfusion
    • Hemoglobinopathy: condition in which there is an excess of beta globin chains forming tetrad (β4) leading to ineffective oxygen carrying

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    Description

    Learn about the definition, types, and clinical severity of thalassemia and hemoglobinopathies in this lecture by Dr. Shaema Salih MD, PhD, a molecular hematopathologist. Understand the abnormality in the rate of synthesis of globin chain leading to hypochromic microcytic anemia.

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