The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Abstract

The Italian scheme of External Quality Assessment for beta-thalassemia started in 2001 as part of a project twice funded by the Italian Ministry of Health and coordinated by the Istituto Superiore di Sanità. To date, five trials have been performed (2001-2004 and 2006). The aim of the Italian scheme is to help public laboratories in improving and reaching a high standard of quality when performing a molecular test. Many laboratories took part in the 5-year project, and their participation was constant during the whole period. The aims of this paper are to describe the genotyping and reporting results as well as focusing on the techniques and the testing strategies adopted to detect mutations. Almost 99% of the alleles analyzed were correctly detected by laboratories, while 0.33% of the analyses gave a wrong result. Reverse dot blot was the most used technique, and it was always used in the strategies adopted by laboratories to detect mutations. The reports sent by laboratories showed incompleteness and heterogeneity; thus, a new model for written reports has been introduced since 2004. It will be interesting to monitor the effects of the reporting model and the output of this educational action in the future.

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

“…In comparison, the error percentage for the CF scheme was higher in this round than the median error rate registered in previous rounds (0.2%) [14]. In the framework of the BT scheme, only the analysis of 1/68 samples was wrong (1.5%) and the error percentage was higher than the median error rate reported in previous rounds (0.33%) [16]. The analysis of these errors shows that techniques were generally well performed and raw data had good quality.…”

“…The analysis of these errors shows that techniques were generally well performed and raw data had good quality. In spite of previous rounds, where errors were mainly due to technical errors, during the VII round all errors were caused by suboptimal management of samples [14, 16]. …”

“…Mutations carried by samples are validated in the ISS by routine methods: (1) direct sequencing for APC [17]; (2) PCR and Southern Blot for FX [15]; (3) PCR, sequencing and Reverse Dot Blot (RDB) for BT [16]; (4) PCR and RDB Kit according to manufacturing protocols (INNO-LiPA CFTR 19 and INNO-LiPA CFTR 17+Tn, Innogenetics, Belgium) for CF. Each laboratory received four aliquots of 7  μ g, 7  μ g, 20  μ g, and 40  μ g of validated DNA for the CF, BT, APC, and FX scheme, respectively.…”

Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia

“…Proficiency testing of hemoglobinopathy techniques in Ontario laboratories initiated in 1989 focused on the accuracy of screening test for sickle cell disease and Hb electrophoresis ( 19 ). More recent study of external quality assessment conducted in Italy focused on Hb A 2 measurement and genotyping of β-thalassemia ( 20 , 21 ). The Dutch Foundation for Quality Assessment in Medical Laboratories (SKML) currently provides international PT program for thalassemia by assessing the accuracy of Hb A 2 and Hb F as well as diagnostic skill of participants ( 22 ).…”

Investigating the reasons for marriage among couples with thalassemia minor, in Iran

“…In Iran, more than a decade has passed since the implementation of the thalassemia screening and control program. However, many cases of major thalassemia are still being reported (Zeinalian et al 2013;Tosto et al 2009;Fucharoen and Winichagoon 2007;Rezabeigi Davarani et al 2019a), and because the cost of treatment is high, many of these patients are treated by finances coming from charities.…”