title: Sickle Lepore hemoglobin identified in a black American infant.
abstract: An integrated newborn infant screening, follow-up testing, and counseling service for hemoglobinopathies creates opportunity for early medical management of disease processes, assistance to parents in developing coping strategies, and educational counseling about recurrence risks in subsequent pregnancies. These objectives were operative in a case of sickle Lepore hemoglobin identified through a newborn infant screening service. The initial screening test was reported as Hb AS. Follow-up electrophoresis on cellulose acetate was compatible with Hb SS, but in citrate acid agar gel there were major and minor zones of S and A mobility, respectively. This and other hematologic parameters in both the child and his father were compatible with a sickle Lepore phenotype. This was supported by a tryptic peptide map of the purified variant hemoglobin from the father. Without a follow-up testing and counseling service, this case would probably have been missed until manifestation of clinical phenotype.
mesh_terms: D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000235:genetics; D001797:Blood Protein Electrophoresis; D005817:Genetic Counseling; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D010641:Phenotype
chemical_list: D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore