beta thalassemia

Epidemiology

• most common in persons from Mediterranean, Southeast Asia, India, Pakistan

Genetics

deletion or dysfunction of one or both beta-globin genes

• beta-thalassemia minor:
  • one of the 2 beta globin genes is affected
  • mild anemia
• beta-thalassemia major
  • both beta-globin genes are affected
  • severe anemia
• beta-thalassemia intermedia
  • heterozygotes of beta-thalassemia major & beta-thalassemia minor
  • anemia of intermediate severity

Laboratory

• complete blood count (CBC)
  • RBC count may be normal to high
  • MCV may be very low (microcytosis)
• peripheral blood smear
  • microcytosis
  • target cells
• reticulocyte count: reticulocytosis
• hemoglobin electrophoresis
  • hemoglobin F increased
  • hemoglobin A2 increased
• iron studies
  • serum ferritin is normal
  • serum iron, TIBC & % transferrin saturation are normal
• beta globin gene mutation
• also see more-specific type
  • thalassemia major
  • beta thalassemia intermedia
  • thalassemia minor

Complications

• pulmonary hypertension
• inappropriate administration of iron for microcytic anemia may lead to iron overload*

* iron overload can occur in patients with thalassemia without blood transfusion

Differential diagnosis

• iron deficiency:
  • low serum ferritin
  • RBC count low
  • RDW high
  • hemoglobin electrophoresis normal

Management

• folate supplementation

More general terms

• thalassemia

More specific terms

• beta thalassemia intermedia
• beta thalassemia major (Cooley's anemia)
• beta thalassemia minor; beta thalassemia trait
• hemoglobin S/beta thalassemia +
• hemoglobin S/beta thalassemia 0
• hereditary persistence of hemoglobin F
• X-linked thrombocytopenia with beta-thalassemia; thrombocytopenia, platelet dysfunction, hemolysis, & imbalanced globin synthesis

Additional terms

• beta globin gene

Patient information

beta thalassemia patient information