Beta Thalassemia

Aka: Beta Thalassemia, Cooley's Anemia, Beta Thalassemia Major, Beta Thalassemia Intermedia, Beta Thalassemia Trait, Thalassemia with Other Hemoglobinopathy, HbC with Beta Thalassemia, Hemoglobin C - Beta Thalassemia, Hemoglobin C-F Disease, HbE with Beta Thalassemia, Haemoglobin E - Beta thalassaemia, HbS with Beta Thalassemia, Hemoglobin S - Beta Thalassemia, Sickle Cell with Beta Thalassemia, Sickle - Beta Thalassemia

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II. Epidemiology: Ethnicity

  1. Southern Italy and Mediterranean islands (0.1% Incidence)
  2. Central Africa
  3. Southeast Asia

III. Pathophysiology

  1. See Hemoglobin Production
  2. Autosomal Recessive trait affecting single gene on each of the two Chromosome 11
  3. Results in decrease of absence of Hemoglobin beta chains and excess of alpha chains
  4. Images
    1. hemoglobin.jpg

IV. Types: Beta Thalassemia

  1. Beta Thalassemia Trait
    1. One gene defect on Chromosome 11 (Heterozygote)
    2. Typically asymptomatic
  2. Beta Thalassemia Intermedia
    1. Two gene defect on Chromosome 11
    2. Mild to moderate decrease in beta globin synthesis, and may require intermittent Blood Transfusions
    3. Moderate symptoms (less than in Beta Thalassemia Major) - see below
  3. Beta Thalassemia Major (Cooley's Anemia)
    1. Two gene defect on Chromosome 11
    2. Severe decrease in beta globin synthesis
    3. Severe symptoms (see below)
    4. Associated with Gallstones, skeletal abnormalities, Hepatosplenomegaly, Jaundice, pallor
    5. Onset of symptoms by 6 months of age after Hemoglobin F (fetal Hemoglobin) levels fall
      1. Lifelong Blood Transfusions required after 6 months of age

V. Types: Beta Thalassemia with Hemoglobinopathy

  1. Hemoglobin C Disease (HbC)
    1. Beta Thalassemia with mildly reduced Beta Globin Synthesis (HbC/B+)
      1. Mild Anemia may be present
    2. Beta Thalassemia with severely reduced Beta Globin Synthesis (HbC/B0)
      1. Microcytic Anemia
  2. Hemoglobin E Disease (HbE)
    1. Beta Thalassemia Trait (HbE/B+)
      1. Mild to moderate Anemia
    2. Beta Thalassemia (HbE/B0)
      1. Similar to Beta Thalassemia Intermedia and major
      2. May be transfusion dependent
  3. Hemoglobin S Disease (HbS)
    1. Beta Thalassemia with mildly reduced Beta Globin Synthesis (HbS/B+)
      1. Less Anemia, pain and Hemolysis than with the B0 version
    2. Beta Thalassemia with severely reduced Beta Globin Synthesis (HbS/B0)
      1. Nearly identical to Sickle Cell Anemia (HbSS)
      2. Low MCV may distinguish HbS/B0 from HbSS

VI. Findings

  1. See Thalassemia
  2. Typically asymptomatic outside of Beta Thalassemia Major

VII. Labs

  1. See Thalassemia
  2. Hemolytic Anemia
    1. Typically more severe Anemia than with Alpha Thalassemia
  3. Hemoglobin Electrophoresis
    1. See Thalassemia for findings

VIII. Management

  1. See Thalassemia

IX. Prevention

  1. See Thalassemia

X. Prognosis: Life Expectancy

  1. See Thalassemia

XI. Complications

  1. See Thalassemia

XII. References

  1. Baird (2022) Am Fam Physician 105(3): 272-80 [PubMed]
  2. Muncie (2009) Am Fam Physician 80(4): 339-44 [PubMed]
  3. Piel (2014) N Engl J Med 371(20): 1908-16 [PubMed]
  4. Rund (2005) N Engl J Med 353(11):1135-46 [PubMed]

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