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Intern Med ; 42(7): 595-8, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12879953

RESUMO

We encountered two patients with abnormally low glycohemoglobin levels in spite of normal plasma glucose levels. Since the presence of an abnormal hemoglobin was suggested by high-performance liquid chromatography (HPLC), gene analysis of these two patients was conducted by single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing, and Hb Kamakura with one base substitution (beta3 Leu --> Val) in the beta globin gene was detected in both patients. There was been only one report of Hb Kamakura in Kanagawa Prefecture, and our patients represent the second and third cases, respectively.


Assuntos
Hemoglobinas Glicadas/análise , Hemoglobinas Anormais/análise , Adulto , Cromatografia Líquida de Alta Pressão , Feminino , Hemoglobinas Anormais/genética , Humanos , Masculino , Mutação Puntual , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA
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