Background: Deficiency of vitamin B(12) or folate causes megaloblastic anemia (MA). The disease presents with pancytopenia due to the excessive cellular apoptosis of hematopoietic progenitor. MA is characterized by the presence of high mean corpuscular volume in the blood routine test and hyperlobulation nuclei of the granulocytes in the peripheral blood smears, and megaloblasts in the bone marrow.
Methods: We report a rare case, in which megaloblastic anemia was masked by an unrecognized hemoglobinopathy and presented with normocytic anemia and atypical morphological features of bone marrow.
Results: The patient was finally diagnosed with coexistence of MA and a-thalassemia minor due to determination of folate deficiency and genetic mutation for a-thalassemia.
Conclusions: The case focuses on the contribution of the peripheral circulating blood smear examination in the diagnosis of anemia.