title: Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia.
abstract: Identification of hemoglobinopathies in pediatric patients can be challenging and has important implications for the patient, as well as family members. Laboratory identification of uncommon hemoglobin (Hb) variants can pose a significant problem. Although many Hb variants can be largely identified using conventional electrophoresis and HPLC, confirmatory Hb DNA analysis may be necessary. This report provides an example of a pediatric patient with a complex heterozygous Hb by electrophoresis and HPLC, which necessitated identification by DNA analysis. Clinical and laboratory scenarios warranting Hb DNA analysis are additionally discussed.
authors.affiliation: Departments of *Pathology †Laboratory Medicine ‡Pediatrics, Yale School of Medicine, New Haven §VA Connecticut Healthcare, West Haven, CT.
authors.forename: Helen
authors.initials: H
authors.lastname: Honarpisheh
authors.forename: Mary-Jane
authors.initials: MJ
authors.lastname: Staba Hogan
authors.forename: Henry M
authors.initials: HM
authors.lastname: Rinder
authors.forename: Alexa J
authors.initials: AJ
authors.lastname: Siddon
mesh_terms: D000293:Adolescent; D000740:Anemia / Q000150:complications*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006403:Hematologic Tests; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000209:etiology; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D011379:Prognosis
chemical_list: D006455:Hemoglobins, Abnormal