Thalassemia

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Background

  • A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic anemia
  • Most common in Mediterranean, Middle Eastern, African and Southeast Asian population

Clinical Features

  • Categorized depending on globin chain affected or the abnormal Hb produced
    • β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema

ɑ-Thalassemia Carrier and Trait

  • no clinical symptoms or physical findings
  • microcytic RBCs and normal Hb level

Hemoglobin H Disease (HbH disease)

  • one ɑ-globin chain gene is still functional
  • typically presents in neonatal period with severe hypochromic anemia
  • hypochromic, microcytic anemia with jaundice and hepatosplenomegaly
  • may not require regular transfusions
  • tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis

β-Thalassemia Minor (β-Thalassemia Trait)

  • heterozygous for β-globin mutation
  • mild microcytic anemia
  • splenomegaly uncommon
  • microcytosis, hypochromia, basophilic stippling on blood smear
  • no clinical symptoms

β-Thalassemia Major (Cooley Anemia)

  • both β-globin genes defective; β-globin chain production severely impaired
  • typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
  • hepatosplenomegaly, jaundice, expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to infection
  • severe anemia requiring regular and lifelong blood transfusions
    • iron overload secondary to frequent transfusions is etiology of most of morbidity and mortality
  • low MCV with microcytic and hypochromic RBC

Sickle Cell-β-Thalassemia Disease

ɑ β

Differential Diagnosis

Evaluation

Management

Disposition

See Also

External Links

References