beta thalassemia intermedia
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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[1]
Diagnostic procedures
- echocardiogram if pulmonary hypertension suspected
Complications
- pulmonary hypertension (most common)
- increased risk of venous thromboembolism[2]
Differential diagnosis
- frequently confused with iron deficiency
Management
- regular transfusions rarely required
- better prognosis than beta thalassemia major