Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia.
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.
Strickland
D K
DK
Duke-University of North Carolina Comprehensive Sickle Cell Center, USA.
Ware
R E
RE
Kinney
T R
TR
D000755:Anemia, Sickle Cell / Q000517:prevention & control; D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D005260:Female; D006450:Hemoglobin SC Disease / Q000517:prevention & control; D006451:Hemoglobin, Sickle / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008297:Male; D015997:Neonatal Screening; D010641:Phenotype; D017086:beta-Thalassemia / Q000175:diagnosis / Q000517:prevention & control*
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal