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Hb Westport [ß121 (GH4) Glu>Asp; HBB:c.366A>C]: A novel ß-globin variant interfering with HbA1c measurement.
Moore, Jordyn A; Li, Bobby V; Wang, Darrell; Chan, Becca; King, Richard I; Florkowski, Chris M.
Afiliación
  • Moore JA; Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand. Electronic address: Jordyn.Moore@cdhb.health.nz.
  • Li BV; Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand; Department of Pathology, University of Otago, PO Box 4345, Christchurch 8140, New Zealand. Electronic address: Bobby.Li@cdhb.health.nz.
  • Wang D; Molecular Pathology, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand. Electronic address: Darrell.Wang@cdhb.health.nz.
  • Chan B; Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand. Electronic address: Becca.Chan@cdhb.health.nz.
  • King RI; Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand; Department of Pathology, University of Otago, PO Box 4345, Christchurch 8140, New Zealand; Molecular Pathology, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand. Electronic
  • Florkowski CM; Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand; Department of Pathology, University of Otago, PO Box 4345, Christchurch 8140, New Zealand. Electronic address: Chris.Florkowski@cdhb.health.nz.
Clin Biochem ; 107: 62-66, 2022 Sep.
Article en En | MEDLINE | ID: mdl-35580651
OBJECTIVES: To describe a novel ß-globin variant that interferes with HbA1c analysis by cation exchange HPLC. DESIGN AND METHODS: Diabetes screening by HbA1c measurement was assessed using cation exchange HPLC and an immunoassay point-of-care analyzer. Routine hemoglobinopathy screening was performed including CBC, HbF and HbA2 measurement by cation exchange HPLC and capillary electrophoresis (CE). Further variant characterization was undertaken by ESI TOF mass spectrometry and DNA sequencing. RESULTS: Discordant HbA1c results were obtained for our subject, with elevated HbA1c of 52 mmol/mol measured by cation exchange HPLC and a normal level of 34 mmol/mol by immunoassay. Abnormal HbA1c peak shape prompted hemoglobinopathy screening to investigate potential variant interference. Cation exchange HPLC (using ß-thalassemia program) and CE results were apparently normal, with HbF and HbA2 detected within reference intervals. ESI TOF mass spectrometry revealed the presence of a variant ß-globin chain. A novel missense variant was confirmed at codon 121 of the ß-globin gene [ß121 (GH4) Glu>Asp; HBB: c.366A>C], which we have named Hb Westport. CONCLUSIONS: Hb Westport is a novel ß-globin variant that interferes with HbA1c measurement by Bio-Rad D-100 cation exchange HPLC, giving a falsely elevated result. This was clinically significant for our subject because the erroneously elevated HbA1c value was above the diabetes diagnostic threshold. Alternative methods for diabetes assessment should be considered in subjects with Hb Westport.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Talasemia beta / Diabetes Mellitus / Hemoglobinopatías Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Clin Biochem Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Talasemia beta / Diabetes Mellitus / Hemoglobinopatías Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Clin Biochem Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos