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Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement
Teresa Herrera del Rey1, Manuel Conde-Sánchez, Paloma Ropero-Gradilla
1Department of Clinical Biochemistry, Virgen del Rocio University Hospital. Instituto de Biomedicina de Sevilla (IBIS/CSIC/University of Sevilla), Avda. Manuel Siurot, s/n. 41013 Seville, Spain.
Objectives:
The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c).
Design And Methods:
Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies. β-globin gene was amplified by PCR and sequenced.
Results And Conclusions:
A novel clinically silent Hb (Hb Seville), that results in falsely low Hb A(1c) measurement, was detected. This Hb variant presented a single base mutation at codon 81 (C→T) of the β-globin gene. This case points out the necessity of careful inspection of the chromatograms and the use of additional methods to Hb A(1c) measurement when the presence of aberrant peaks is detected.
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