Hb Riesa or ß93 (F9) CysâSer, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement.
J Chromatogr B Analyt Technol Biomed Life Sci
; 879(28): 2952-6, 2011 Oct 15.
Article
em En
| MEDLINE
| ID: mdl-21937289
ABSTRACT
A new ß variant was found in a German diabetic patient whose blood samples appeared to contain 45% Hb A(1c) using Bio-Rad Variant V-II A1c-analyzer but 7.6% on boronate affinity chromatography. Structural studies using, HPLC, mass spectrometry, and the genomic DNA analysis revealed a new substitution in which the cysteine residue at position ß93 was replaced by serine. The variant was named Hb Riesa or ß93 (F9) CysâSer and accounted for 54.3% of the total haemoglobin. This suggests that the protein-synthesis processes for the mutant could be slightly more promoted than those of the wild-type. Hb Riesa is clinically and electrophoretically silent.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Hemoglobinas Glicadas
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Mutação de Sentido Incorreto
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Diabetes Mellitus Tipo 1
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Chromatogr B Analyt Technol Biomed Life Sci
Ano de publicação:
2011
Tipo de documento:
Article