Interpretation of fetal hemoglobin only on newborn screening for hemoglobinopathy |
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Authors: | Heeney Matthew M Delgrosso Kathleen Robinson Robbi Johnson Christine A Daeschner Charles W Campbell Thomas A Surrey Saul Ware Russell E |
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Affiliation: | Duke University Medical Center, Durham, North Carolina 27710, USA. |
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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. |
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