beta thalassemia intermedia

Etiology

• homzygosity for B+ thalassemia defect
• compound heterozygousity for various subtypes
• mitigating factors such as coexisting alpha-thalassemia

Clinical manifestations

• splenomegaly
• macrocephaly, frontal bossing
• scleral icterus

Laboratory

• Hgb electrophoresis
• CBC with peripheral smear
  • microcytosis (very low MCV)
  • hypochromia
  • marked anemia
  • normal RDW
• iron studies, Fe deficiency workup vs iron overload if transfused

Diagnostic procedures

• echocardiogram if pulmonary hypertension suspected

Complications

• pulmonary hypertension (most common)
• increased risk of venous thromboembolism

Differential diagnosis

• frequently confused with iron deficiency

Management

• regular transfusions rarely required
• better prognosis than beta thalassemia major

More general terms

• beta thalassemia