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Sant'Andrea Apostolo dello Ionio, Italy

Villa A.,Servizio di Patologia Clinica Ed Ematologia | Brachelente G.,Servizio di Patologia Clinica Ed Ematologia | Pecetti M.G.,Servizio di Patologia Clinica Ed Ematologia | Rocchi L.,Servizio di Patologia Clinica Ed Ematologia | And 2 more authors.
Biochimica Clinica | Year: 2014

The α1-antitrypsin (AAT) deficiency is a severe genetic disorder potentially life-threatening. The diagnosis of the AAT deficiency is not easy and it is usually performed in specialized centers. It has been estimated that the condition is highly underdiagnosed. Aim of this study was to verify if the serum protein electrophoresis, widely used in clinical laboratories for the diagnosis of plasma cell dyscrasias, can be used for the incidental detection of the AAT deficit. AAT is the most abundant protein of the α1 electrophoretic zone and a decrease in this area could indicate a low serum AAT concentration. In a preliminary study aimed to establish the cut-off value of α1 zone, it was verified that in 50 subjects with the functional AAT phenotype the lowest value of the α1 zone was 2.3 g/L. Serum protein electrophoreses performed in a 5-month period were examined. Using the previously established cut-off, 22 subjects (out of 26,414; 0.08%) with a possible AAT deficit were identified. 20 of these subjects showed AAT serum concentrations below the value employed in the diagnostic algorithm of the Italian Reference Center (1.13 g/L). The agarose gel phenotyping of these samples showed a large overlapping of AAT serum concentrations in different phenotypes. The results of the study suggest to measure AAT in subjects showing an α1 zone <2.3 g/L.

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