Dell'Edera Domenico, Epifania Annunziata Anna, Malvasi Antonio, Pacella Elena, Tinelli Andrea, Capalbo Antonio, Lioi Maria Brigida, Di Renzo Giancarlo
Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy.
J Matern Fetal Neonatal Med. 2013 Mar;26(5):445-8. doi: 10.3109/14767058.2012.735998. Epub 2012 Oct 30.
This research, conducted on 1495 couples in preconceptional period, demonstrates how the study of globular resistance of erythrocytes (GRO) is not a first choice test and not useful as other more accurate tests to identify subjects with β-thalassemia trait. Instead, the complete blood count (CBC) and the evaluation of HbA, HbA2 and HbF by high pressure liquid chromatography (HPLC) are essential.
Each couple arrived in our laboratory to screen for β thalassemia. In case of patients with positive (240) or doubtful (112) results, we studied β-globin gene.
Of the 2990 subjects examined, we found 280 subjects with β-thalassemia trait (9.36%). During biochemical tests, among 112 subjects with doubtful--normal GRO or altered GRO--results, 40 of them resulted positive for the molecular analysis, while 72 of them did not show mutations in β-globin genes. The 2710 samples with non-carriers of β-thalassemia trait presented as mean evaluation of HbA2 2.6%, while the 280 subjects with β-thalassemia trait presented as mean evaluation of HbA2 4.8%. Molecular study showed that the β thalassemia phenotype is caused by a small number of mutations, whose regional distribution is typical.
In the presence of thalassemic parameters in the CBC, the accurate and precise quantification of hemoglobin HbA2 is essential for the diagnosis of β-thalassemia trait. DNA mutation analysis provides the most effective way to detect primary gene mutations. The mutations identified in this work can be identified with a simple and inexpensive kit. This means, in economic terms, a significant savings for health spending.
本研究对1495对孕前夫妇进行，结果表明红细胞球形抵抗（GRO）研究并非首选检测方法，对于识别β地中海贫血特征个体而言，它不如其他更准确的检测方法有用。相反，全血细胞计数（CBC）以及通过高压液相色谱法（HPLC）对HbA、HbA2和HbF进行评估至关重要。
每对夫妇到我们实验室进行β地中海贫血筛查。对于结果呈阳性（240例）或可疑（112例）的患者，我们研究其β珠蛋白基因。
在2990名受检者中，我们发现280名具有β地中海贫血特征（9.36%）。在生化检测中，112名GRO结果可疑正常或异常的受试者中，40名分子分析结果呈阳性，而72名未显示β珠蛋白基因突变。2710例无β地中海贫血特征携带者的样本中，HbA2平均评估值为2.6%，而280例具有β地中海贫血特征的受试者中，HbA2平均评估值为4.8%。分子研究表明，β地中海贫血表型由少数突变引起，其区域分布具有典型性。
当CBC中存在地中海贫血参数时，准确精确地定量血红蛋白HbA2对于诊断β地中海贫血特征至关重要。DNA突变分析提供了检测原发性基因突变的最有效方法。本研究中鉴定出的突变可用简单且廉价的试剂盒进行识别。从经济角度来看，这意味着医疗支出可大幅节省。
