A new hereditary hemoglobinopathy (the Lepore trait) and its interaction with thalassemia trait.

By PARK S. GERALD AND Louis K. DIAMOND T HIS REPORT details our experiences with a new hemoglobinopathy which we have named the “Lepore trait.” This condition was discovered during a recent survey of the relatives of thalassemia major children.1 The mother of a child with clinical thalassemia major was found to possess a new abnormal hemoglobin (which we have named the Lepore hemoglobin) demonstrable only by starch block electrophoresis. Since the father of the child did not differ from the majority of thalassemia heterozygotes previously studied,1 it was presumed that the propositus was doubly heterozygous for the Lepore trait and for classical thalassemia trait#{176}-a belief strengthened by the subsequent detection of the Lepore hemoglobin in his blood. The Lepore trait itself was identified in four other members of the mother’s family. This new hemoglobinopathy differs in several respects from the abnormal hemoglobin traits previously described. It is characterized by an erythrocyte morphology closely resembling that seen in classical thalassemia trait and by the presence of a new abnormal hemoglobin (the Lepore hemoglobin) occurring in low concentration (10-12% of the total pigment). In these properties, and in the clinical picture of its interaction with classical thalassemia trait, it seems to be more closely allied to thalassemia than to the abnormal hemoglobin syndromes. The present communication describes the clinical aspects of the Lepore trait, the syndrome resulting from its interaction with classical thalassemia trait, and the physicochemical properties of the Lepore hemoglobin.