Mosca Andrea, Paleari Renata, Galanello Renzo, Sollaino Carla, Perseu Lucia, Demartis Franca Rosa, Passarello Cristina, Giambona Antonino, Maggio Aurelio
CIRME, Dip. di Scienze e Tecnologie Biomediche, Università degli Studi di Milano, Via F.lli Cervi 93, Segrate, Italy.
Bioelectrochemistry. 2008 Aug;73(2):137-40. doi: 10.1016/j.bioelechem.2008.04.010. Epub 2008 Apr 13.
The increase of HbA(2) is the most important feature in the identification of beta-thalassemia carriers. However, some carriers are difficult to identify, because the level of HbA(2) is not in the typical range. Few data are available concerning the prevalence of such unusual phenotypes, and knowing their expected prevalence could be helpful in detecting systematic drifts in the analytical systems for HbA(2) quantification. In this study we report a retrospective investigation in two centres with high prevalence of beta-thalassemia. The prevalence of borderline subjects was found to be 2.2 and 3.0%, respectively. The genotypes of a subgroup of these subjects were then analyzed and in about 25% of cases a mutation in the globin genes was identified. We conclude that the occurrence of HbA(2) borderline phenotypes is not a rare event. In order to obtain more accurate HbA(2) measurements the development of an international reference measurement system for HbA(2), based on quantitative peptide mapping, has been recently started. We believe that the innovative approach of our method could also be used as a model to develop accurate quantitative methods for other red cell proteins relevant to the biodynamic properties and the surface electrochemistry of erythrocytes.
HbA(2)升高是鉴定β地中海贫血携带者的最重要特征。然而，一些携带者难以鉴定，因为HbA(2)水平不在典型范围内。关于此类异常表型的患病率，可用数据很少，了解其预期患病率有助于检测HbA(2)定量分析系统中的系统偏差。在本研究中，我们报告了在两个β地中海贫血高患病率中心进行的一项回顾性调查。发现临界受试者的患病率分别为2.2%和3.0%。然后对这些受试者的一个亚组的基因型进行了分析，在约25%的病例中鉴定出珠蛋白基因突变。我们得出结论，HbA(2)临界表型的出现并非罕见事件。为了获得更准确的HbA(2)测量值，最近已开始基于定量肽图谱开发HbA(2)的国际参考测量系统。我们认为，我们方法的创新方法也可作为一种模型，用于开发与红细胞生物动力学特性和表面电化学相关的其他红细胞蛋白的准确定量方法。
