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beta thalassemia minor; beta thalassemia trait
Clinical manifestations:
1) generally asymptomatic
2) no splenomegaly
Pathology:
- ineffective erythropoiesis can be demonstrated by markers of hemolysis
Laboratory:
1) Hgb electrophoresis
a) Hgb A2 3-7%
b) little or no Hgb F (may or may not be increased) [1]
c) hemoglobin A2 is increased (contrast with alpha-thalassemia trait) [1]
2) CBC with peripheral smear
a) microcytosis (MCV 60-70 fL)
b) hypochromia
c) mild anemia (blood hemoglobin 10-12 g/dL)
d) normal RDW
e) erythrocyte count is often high
f) target cells may be present
3) Fe deficiency workup
4) 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:
1) generally benign disorder
2) no therapy is required
Interactions
disease interactions
General
beta thalassemia
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 18, 19.
American College of Physicians, Philadelphia 1998, 2012, 2018, 2022.
- Medical Knowledge Self Assessment Program (MKSAP) 20
American College of Physicians, Philadelphia 2025