Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia.
J Pediatr
; 127(2): 304-8, 1995 Aug.
Article
en En
| MEDLINE
| ID: mdl-7636661
ABSTRACT
Although universal newborn screening can reliably identify all infants with sickle cell hemoglobinopathies, the initial screening result must not be considered the definitive diagnosis. We describe 23 infants whose screening phenotype was FS or FC but whose true phenotype included hemoglobin A, establishing a definitive diagnosis of hemoglobin S or hemoglobin C in combination with beta(+)-thalassemia. Higher than expected hemoglobin concentrations or lower than expected mean erythrocyte volumes should suggest concurrent beta(+)-thalassemia.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Tamizaje Neonatal
/
Talasemia beta
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Pediatr
Año:
1995
Tipo del documento:
Article
País de afiliación:
Estados Unidos