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beta thalassemia intermedia
Etiology:
1) homzygosity for B+ thalassemia defect
2) compound heterozygousity for various subtypes
3) mitigating factors such as coexisting alpha-thalassemia
Clinical manifestations:
- splenomegaly
- macrocephaly, frontal bossing
- scleral icterus
Laboratory:
1) Hgb electrophoresis
2) CBC with peripheral smear
a) microcytosis (very low MCV)
b) hypochromia
c) marked anemia
d) normal RDW
3) iron studies, Fe deficiency workup vs iron overload if transfused [1]
Special laboratory:
- echocardiogram if pulmonary hypertension suspected
Complications:
- pulmonary hypertension (most common)
- increased risk of venous thromboembolism [2]
Differential diagnosis:
- frequently confused with iron deficiency
Management:
1) regular transfusions rarely required
2) better prognosis than beta thalassemia major
Interactions
disease interactions
General
beta thalassemia
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, 18,19.
American College of Physicians, Philadelphia 1998, 2018, 2022.
- NEJM Knowledge+ Hematology