Interpretation of fetal hemoglobin only on newborn screening for hemoglobinopathy

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...

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Published inJournal of pediatric hematology/oncology Vol. 24; no. 6; p. 499
Main Authors Heeney, Matthew M, Delgrosso, Kathleen, Robinson, Robbi, Johnson, Christine A, Daeschner, Charles W, Campbell, Thomas A, Surrey, Saul, Ware, Russell E
Format Journal Article
LanguageEnglish
Published United States 01.08.2002
Subjects
African Americans
beta-Thalassemia - blood
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
Female
Fetal Hemoglobin - analysis
Genetic Carrier Screening
Hematologic Tests
Hemoglobinopathies - blood
Hemoglobinopathies - diagnosis
Hemoglobinopathies - genetics
Humans
Infant, Newborn
Male
Neonatal Screening
Phenotype
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Summary: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.
ISSN:1077-4114
DOI:10.1097/00043426-200208000-00019