Thalassemia Overview and Pathophysiology
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Thalassemia Overview and Pathophysiology

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Questions and Answers

What is the primary cause of anemia in Thalassemia?

  • Increased levels of bilirubin
  • Excess production of iron
  • Inadequate production of hemoglobin due to globin chain synthesis issues (correct)
  • Total absence of hemoglobin
  • Which type of Thalassemia is characterized by point mutations on Chromosome 11?

  • Thalassemia Major
  • Alpha Thalassemia
  • Beta Thalassemia (correct)
  • Thalassemia Minor
  • Which clinical feature is specifically associated with Thalassemia Major in infants?

  • Delayed menarche
  • Skeletal deformities
  • Mild pallor without jaundice
  • Failure to thrive and gross motor delay (correct)
  • What is the result of the relative excess of alpha chains in Thalassemia?

    <p>Formation of aggregates leading to inclusion bodies</p> Signup and view all the answers

    Which of the following denotes the condition of transfusion-required therapy typically due to severe anemia?

    <p>Thalassemia Major</p> Signup and view all the answers

    What hematological finding is typically observed in Thalassemia syndromes?

    <p>Microcytic and Hypochromic Anemia</p> Signup and view all the answers

    Which complication is linked to the accumulation of iron in Thalassemia patients?

    <p>Endocrine disturbances like delayed puberty</p> Signup and view all the answers

    What is the typical presentation of Thalassemia Minor?

    <p>Moderate pallor with no significant symptoms</p> Signup and view all the answers

    What is a common skeletal change seen in patients with Thalassemia Major?

    <p>Chipmunk facies, indicating marrow expansion</p> Signup and view all the answers

    Which of the following infections is particularly a risk in Thalassemia patients?

    <p>Yersinia infections</p> Signup and view all the answers

    What hormonal impact is associated with pituitary iron deposition in Thalassemia patients?

    <p>Delayed puberty and short stature</p> Signup and view all the answers

    Which outcome results from chronic hemolysis in Thalassemia patients?

    <p>Circulating hyperbilirubinemia and jaundice</p> Signup and view all the answers

    What is a potential consequence of ineffective erythropoiesis in Thalassemia?

    <p>Decreased levels of hemoglobin in the blood</p> Signup and view all the answers

    Which feature is indicative of hypersplenism in Thalassemia patients?

    <p>Reduced platelet count</p> Signup and view all the answers

    Study Notes

    Thalassemia

    • Also known as: Von Jaksch Anemia, Cooley's Anemia
    • Characterized by reduced or absent synthesis of globin chains in hemoglobin
    • Most common single gene disorder
    • Inherited Autosomal Recessively
    • Beta Thalassemia: Point mutations on Chromosome 11
      • If beta chain is suppressed, adult Hb is suppressed
    • Alpha Thalassemia: Gene deletions on Chromosome 16
      • If alpha chain synthesis is suppressed, levels of all 3 normal Hbs (A, A2, F) are reduced

    Pathophysiology

    • Reduced beta chain synthesis leads to excess alpha chains
    • Alpha tetramers form aggregates and precipitate in red cells
    • This causes premature destruction of maturing erythroblasts in the marrow (ineffective erythropoiesis) or peripherally (hemolysis)
    • Anemia results from inadequate Hb A, causing tissue hypoxia
    • Increased EPO production stimulates erythropoiesis in the marrow and sometimes extramedullary, expanding the medullary cavity of bones

    Effects of Marrow Expansion

    • Pathological fractures due to cortical thinning
    • Deformities of the skull and face
    • Sinus and middle ear infection due to ineffective drainage
    • Folate deficiency
    • Hypermetabolic state -> fever, wasting
    • Increased iron absorption from the intestine.

    Hepatomegaly

    • Extramedullary erythropoiesis
    • Iron released from breakdown of endogenous or transfused RBCs is not utilized for hemoglobin synthesis, leading to hemosiderosis
    • Hemochromatosis
    • Infections: Transfusion related (Hepatitis B, C, and HIV)
    • Chronic active hepatitis

    Splenomegaly

    • Extramedullary hematopoiesis
    • Work hypertrophy due to constant hemolysis
    • Hypersplenism (progressive splenomegaly)
    • Jaundice
      • Unconjugated hyperbilirubinemia: Hemolysis
      • Hepatitis: Transfusion, hemochromatosis
      • Gallbladder stones: Obstructive jaundice
      • Cholangitis

    Infections

    • Poor nutrition
    • Increased iron in the body
    • Blockage of the monocyte-macrophage system
    • Hypersplenism: Leukopenia
    • Infections associated with transfusions

    Iron Accumulation

    • Deposition in the pituitary (Endocrine disturbance): Short stature, delayed puberty, poor secondary sexual characteristics
    • Hemochromatosis: Cirrhosis of the liver
    • Cardiomyopathy (cardiac hemosiderosis): Cardiac failure, sterile pericarditis, arrhythmias, heart block
    • Deposition in the pancreas: Diabetes mellitus
    • Lungs: Restrictive lung defects
    • Adrenal insufficiency
    • Hypothyroidism, Hypoparathyroidism
    • Increased susceptibility to infections (iron favors bacterial growth), especially Yersinia infections

    Clinical Features (Thalassemia Major)

    Infants

    • Age of presentation: 6-9 months (HbF replaced by HbA)
    • Progressive pallor and jaundice
    • Cardiac failure
    • Failure to thrive, gross motor delay
    • Feeding problems
    • Bouts of fever and diarrhea
    • Hepatosplenomegaly

    Childhood

    • Growth retardation
    • Severe anemia-cardiac dilatation
    • Transfusion-dependent
    • Icterus
    • Changes in skeletal system

    Skeletal Changes

    • Chipmunk Facies (Hemolytic Facies)
      • Frontal bossing, maxillary hypertrophy, depression of nasal bridge, malocclusion of teeth
    • Paravertebral Masses
    • Broad expansion of ribs at vertebral attachment
    • Paraparesis
    • Pathological Fractures
    • Cortical thinning
    • Increased porosity of long bones
    • Delayed Pneumatization of the Sinuses
    • Premature fusion of the Epiphyses: Short stature

    Other Clinical Features

    • Delayed menarche
    • Gallstones, Leg ulcers
    • Pericarditis
    • Diabetes/Cirrhosis of the Liver
    • Evidence of Hypersplenism

    Clinical Features (Thalassemia Intermedia)

    • Moderate pallor, usually maintains Hb >6gm%
    • Anemia worsens with pregnancy and infections (erythroid stress)
    • Less transfusion dependent
    • Skeletal changes present, progressive splenomegaly
    • Growth retardation
    • Longer survival than Thalassemia major

    Clinical Features (Thalassemia Minor)

    • Usually asymptomatic
    • Mild pallor, no jaundice
    • No growth retardation, no skeletal abnormalities, no splenomegaly
    • May present as Iron Deficiency Anemia

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    Description

    Explore the fundamentals of Thalassemia, including its types, beta and alpha chain synthesis, and related pathophysiological effects. This quiz covers the genetic basis, effects on hemoglobin, and complications like ineffective erythropoiesis and hemolysis. Understand how these factors contribute to anemia and tissue hypoxia.

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