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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282


ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da A. Ravani

Consensus 2019 per l’analisi genetica in Fibrosi Cistica: presentazione del Documento
Presentation of the Consensus Document 2019 on the genetic analysis of Cystic Fibrosis
<p>The causative gene of Cystic Fibrosis (CF) is the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Although monogenic, CF has a complex genotype &ndash; phenotype relationship mainly originated by the high number of CFTR variants, the challenging mutational analysis, the incomplete functional knowledge and the variable clinical outcome of most variants, the action of modifier genes. This complexity affects diagnosis, prognosis and precision&nbsp;therapy. A correct and complete genetic analysis is crucial for all these aspects. The Consensus Document 2019 on the genetic analysis of CF (1S) provides a guidance to practitioners for the appropriate request and proper use of genetic testing in CF, as well as for the correct interpretation of the test result. It is to be hoped that the broad sharing achieved between the scientific societies involved can standardize the approach at national level and can improve the usefulness of the information provided to users, as part of a continuous process of improvement.</p>
Biochimica Clinica ; 44(4) 397-399
Documenti SIBioC - SIBioC Documents
Varianti rare dell’emoglobina: la nostra esperienza con gli analizzatori Sysmex di ematologia
Rare hemoglobin variants: our experience with Sysmex hematology analyzers
<p>The consolidation of laboratory activities optimizes resources and improves the expertise of the staff that encounters more frequently rare and exceptional cases. In the recent months, the Romagna Greater Area Laboratory, which provides a diagnostic service for over a million inhabitants in North Italy, detected an unusual instrumental alarm in a few routine blood counts. Further investigations demonstrated the presence in the samples of hemoglobin (Hb) variants, characterized with subsequent molecular analysis as Hb Leiden and Hb G-Ferrara. These Hb variants reduce the fluorescence signal hampering the differential leukocyte count carried out by the Sysmex XE2100 hematology analyzer. In all the investigated cases, irregular contracted red blood cells (RBC) and target RBC were present. HPLC analysis of the two Hb variants shows Hb Leiden and Hb G-Ferrara peaks at 4.28 min and 3.23 min of elution time, respectively. It is clinically important to identify carriers of these variants in specific clinical setting, since heterozygotes for these Hb variants are asymptomatic, but complications could be induced by drug therapies, viral infection or heterozygosity for b-thalassemia or other Hb variants. Our findings demonstrate the importance to investigate samples with low fluorescence when assayed using Sysmex analyzers. Finally, the reported cases confirm the effectiveness of tight integration between huge routine workload and specialized competence for the detection of unusual clinical conditions.</p>
Biochimica Clinica ; 40(4) 334-337
Contributi scientifici - Scientific Papers