beta thalassemia minor; beta thalassemia trait

Pathology

• ineffective erythropoiesis can be demonstrated by markers of hemolysis

Clinical manifestations

• generally asymptomatic
• no splenomegaly

Laboratory

• Hgb electrophoresis
  • Hgb A2 3-7%
  • little or no Hgb F (may or may not be increased)
  • hemoglobin A2 is increased (contrast with alpha-thalassemia trait)
• CBC with peripheral smear
  • microcytosis (MCV 60-70 fL)
  • hypochromia
  • mild anemia (blood hemoglobin 10-12 g/dL)
  • normal RDW
  • erythrocyte count is often high
  • target cells may be present
• Fe deficiency workup
• markers of hemolysis
  • increased serum lactate dehydrogenase
  • increased serum unconjugated bilirubin
  • decreased serum haptoglobin

Differential diagnosis

• alpha-thalassemia trait
  • hemoglobin A2 is normal
  • hemoglobin F is normal

Management

• generally benign disorder
• no therapy is required

More general terms

• beta thalassemia

Patient information

beta thalassemia minor patient information