SF3B1-mutated MDS coexisting with β-thalassemia trait: A case report and literature review focused on diagnostic distinction from acquired β-thalassemia.
Zenghui Fang, Lu Chen, Menghe Zhao et al.
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Case in brief
An 81-year-old man presented with fatigue and fever, and testing showed microcytic anemia. Bone marrow morphology and molecular studies identified SF3B1-mutated myelodysplastic syndrome (MDS) alongside β-thalassemia trait. Longitudinal hematologic and molecular findings supported a hereditary thalassemic phenotype rather than microcytosis acquired with the myeloid clone. He received conservative management and was discharged; during three outpatient visits for blood-count monitoring, he remained clinically stable.
What made this case unusual
The diagnostic challenge was distinguishing preexisting hereditary β-thalassemia trait from an acquired thalassemic phenotype associated with MDS in a patient with microcytosis.
Diagnostic / clinical pearl
In MDS with microcytosis, use longitudinal blood-count history alongside hemoglobin analysis and molecular testing to assess whether the thalassemic phenotype predates the clonal disorder.