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Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia.
Honarpisheh, Helen; Staba Hogan, Mary-Jane; Rinder, Henry M; Siddon, Alexa J.
Afiliação
  • Honarpisheh H; Departments of *Pathology †Laboratory Medicine ‡Pediatrics, Yale School of Medicine, New Haven §VA Connecticut Healthcare, West Haven, CT.
J Pediatr Hematol Oncol ; 37(6): 472-3, 2015 Aug.
Article em En | MEDLINE | ID: mdl-26181419
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.
Assuntos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Hemoglobinopatias / Anemia Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans Idioma: En Revista: J Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Hemoglobinopatias / Anemia Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans Idioma: En Revista: J Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article