Hb Ullevaal [β78(EF2)Leu→Val; HBB: c.235C>G], a New Hemoglobin Variant Interfering with Hb A1c Measurement Using a Cation Exchange High Performance Liquid Chromatography Method

被引：7
|
作者：
Grimholt, Runa M. [1 ]
Sudmann, Ashild A. [1 ]
Piehler, Armin P. [2 ]
Urdal, Petter [1 ]
Klingenberg, Olav [3 ]
机构：
[1] Oslo Univ Hosp, Dept Med Biochem, N-0424 Oslo, Norway
[2] Furst Med Lab, Oslo, Norway
[3] Oslo Univ Hosp, Rikshosp, Dept Med Biochem, N-0424 Oslo, Norway
来源：
HEMOGLOBIN | 2014年 / 38卷 / 02期
关键词：
Hemoglobin (Hb) variant; Hb A(1c); high performance liquid chromatography (HPLC); beta-globin gene; HBA1C;
D O I：
10.3109/03630269.2013.858640
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
A new hemoglobin (Hb) variant was detected during Hb A(1c) measurement. DNA sequencing showed heterozygosity for the single nucleotide substitution (C>G) on the beta-globin gene causing an amino acid change [beta 78(EF2)Leu -> Val; HBB: c.235C>G]. The new Hb variant was designated Hb Ullevaal after the hospital at which it was discovered. Heterozygosity for Hb Ullevaal appears to have no clinical significance. However, it interferes with Hb A1c measurement by cation exchange high performance liquid chromatography (HPLC), causing falsely low Hb A(1c) concentration when using the Tosoh G7 apparatus in variant mode.
引用
收藏
页码：130 / 132
页数：3
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