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Questions and Answers
What is the main cause of thalassemia?
What is the molecular basis of thalassemia?
Which type of thalassemia is associated with mutations in genes on chromosome 11?
Which population is more commonly affected by Alpha-Thal & Hb E type thalassemia?
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How many types of protein chains does hemoglobin have, leading to two types of thalassemia?
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What characterizes the anemia caused by thalassemia?
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Which type of thalassemia is characterized by infants appearing normal at birth but developing anemia and splenomegaly by the end of their first year?
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What is the condition in which there is deletion of a single gene and no manifestation of hemoglobinopathy?
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Which type of thalassemia is characterized by an imbalance between alpha and beta chains leading to excess gamma globin chains in fetus and newborn?
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What causes skeletal deformities like bossing of skull and maxillary prominence in Beta Thalassemia major?
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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?
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What is the term for the inheritance of two mutated beta genes in Beta Thalassemia major?
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Which type of thalassemia encompasses all cases with significant symptoms but do not require regular transfusion?
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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?
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Which type of thalassemia is characterized by deletion of a single gene with no manifestation of hemoglobinopathy?
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What are the lab and clinical features that mirror those of severe phenotype in Beta Thalassemia Intermedia?
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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.
