Esther Agnethe Ejskjær Gravholt, Jesper Petersen, Morten Mørk, Andreas Glenthøj
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引用次数: 0
摘要
我们报告发现了一种新型β-球蛋白基因变异体--Hb Odder,其特征是单核苷酸置换;HBB:c.316C > G; CD105 (Leu > Val)。该变异是在监测糖尿病的常规 HbA1c 测量中偶然出现的。患者没有贫血或溶血的临床或生化证据。我们关于该变异体的数据表明,Hb Odder 是良性的,但遗憾的是,我们的数据有限,无法对稳定性和氧亲和力进行正式评估;此外,这也强调了在鉴别诊断 Hb A1c 水平异常时考虑血红蛋白变异体的重要性,并建议实验室在血红蛋白变异体干扰糖尿病监测时,应使用其他方法正确测量 Hb A1c。值得注意的是,在β球蛋白链的第105密码子上还发现了另外三种突变,它们对应于三种具有不同特征的血红蛋白变体:Hb South Milwaukee、Hb Bellevue IV 和 Hb St.
We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; HBB:c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring. The patient exhibited no clinical or biochemical evidence of anemia or hemolysis. Our data on this variant suggest that Hb Odder is benign, regrettably limitations in our data make formal evaluations of stability and oxygen affinity impossible; additionally this emphasizes the importance of considering hemoglobin variants in the differential diagnosis of abnormal Hb A1c levels and suggest that laboratories should use alternative methods for the correct measurement of Hb A1c when hemoglobin variants interfere with diabetes monitoring. Notably, three other mutations have been described at codon 105 of the β globin chains and correspond to three Hb variants with different characteristics: Hb South Milwaukee, Hb Bellevue IV and Hb St. George.
期刊介绍:
Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view
The journal covers topics such as:
structure, function, genetics and evolution of hemoglobins
biochemical and biophysical properties of hemoglobin molecules
characterization of hemoglobin disorders (variants and thalassemias),
consequences and treatment of hemoglobin disorders
epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening)
modulating factors
methodology used for diagnosis of hemoglobin disorders