Blood, 1958, Vol. 13, No. 9, pp. 835-844.
© 1958 American Society of Hematology, Inc.
A New Hereditary Hemoglobinopathy (the Lepore Trait)
and Its Interaction with Thalassemia Trait
PARK S. GERALD 1 and
LOUIS K. DIAMOND 1
1 Department of Pediatrics, Harvard Medical School and the Children’s Medical
Center, Boston, Mass.
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.
Submitted on November 18, 1957
Accepted on February 15, 1958
