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Sickle Lepore hemoglobin identified in a black American infant
Insights
Newborn screening for hemoglobinopathies like sickle Lepore hemoglobin enables early diagnosis and management. Integrated services improve care and provide crucial genetic counseling for families.
Area of Science:
- Medical Genetics
- Hematology
- Public Health Screening
Background:
- Hemoglobinopathies require early detection for effective management.
- Integrated newborn screening, follow-up testing, and counseling services are vital.
- These services aid in early medical intervention and parental support.
Observation:
- A case of sickle Lepore hemoglobin was identified through newborn screening.
- Initial screening suggested Hb AS, but follow-up electrophoresis revealed a complex pattern.
- Hematologic parameters in the child and father indicated a sickle Lepore phenotype.
Findings:
- Sickle Lepore hemoglobin was confirmed via cellulose acetate and citrate acid agar gel electrophoresis.
- Tryptic peptide mapping of the father's variant hemoglobin supported the diagnosis.
- The diagnosis was contingent on comprehensive follow-up testing.
Implications:
- Early identification of hemoglobinopathies through screening prevents delayed diagnosis.
- Integrated services are crucial for managing genetic blood disorders.
- Genetic counseling informs families about recurrence risks and coping strategies.
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.