Abstract

A new hemoglobinopathy, termed the "Lepore trait," is described. The Lepore trait is characterized by an altered erythrocyte morphology, resembling classical thalassemia trait,[unknown] and by the presence of a hitherto unreported abnormal hemoglobin occurring in low concentration (10-12% of the total hemoglobin). The trait is transmitted as if due to a single gene defect. Simultaneous inheritance of the Lepore trait and classical thalassemia trait occurred in one member of the pedigree studied and resulted in a severe hemolytic anemia clinically indistinguishable from thalassemia major.

On the basis of the erythrocyte morphology, the clinical findings, and the electrophoretic studies, it is conjectured that the Lepore trait may be more closely related to thalassemia than to the other abnormal hemoglobin syndromes.

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