title: Interpretation of fetal hemoglobin only on newborn screening for hemoglobinopathy.
abstract: Newborn screening for hemoglobinopathies rarely produces a fetal hemoglobin only result; it is most consistent with beta-thalassemia major, although other diagnoses are possible. The authors describe two unrelated African-American babies born in North Carolina whose newborn screening revealed fetal hemoglobin only. Both had a relatively benign clinical and hematologic picture. Molecular analyses indicated that both children are compound heterozygotes for beta-thalassemia and pancellular (deletional) hereditary persistence of fetal hemoglobin, a rare and apparently benign condition. Accurate interpretation of the fetal hemoglobin only result on newborn screening requires thorough evaluation, including family studies and molecular analysis.
authors.affiliation: Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Heeney
authors.forename: Kathleen
authors.initials: K
authors.lastname: Delgrosso
authors.forename: Robbi
authors.initials: R
authors.lastname: Robinson
authors.forename: Christine A
authors.initials: CA
authors.lastname: Johnson
authors.forename: Charles W
authors.initials: CW
authors.lastname: Daeschner
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Campbell
authors.forename: Saul
authors.initials: S
authors.lastname: Surrey
authors.forename: Russell E
authors.initials: RE
authors.lastname: Ware
mesh_terms: D001741:Black or African American; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D006580:Genetic Carrier Screening; D006403:Hematologic Tests; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010641:Phenotype; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005319:Fetal Hemoglobin