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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

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

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Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

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Andrea di Bello
Biomedia srl
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Tel. 0245498282


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

BC: Articoli scritti da S. Giordano

Raccomandazioni per la diagnosi neonatale delle emoglobinopatie
Recommendations for the diagnosis of hemoglobinopathies at birth
<p>The laboratory plays an important role in the&nbsp;diagnosis of hemoglobin defects at any age. At the time of birth its role is particularly significant, considering that&nbsp;frequently the newborn has not clinical signs, even when he is carrying thalassemia or other structural defects of&nbsp;hemoglobin. The diagnostic precocity in the affected newborn will help to predict risk, determine appropriate prophylaxis&nbsp;and prevent complications. It may also be helpful for programming treatment and parent control, and planning a&nbsp;prevention for a future pregnancy. In Italy, there have been important demographic and social health changes over the&nbsp;past decade that have suggested the implementation of hemoglobinopathy screening at birth. In addition, the need to&nbsp;know the hemoglobin pattern of the cord blood for possible biobank storage should be regarded as another relevant&nbsp;target. Therefore, it seems timely to define pathways, scope and limits of a correct thalassemia diagnosis at birth through&nbsp;specific recommendations. The Italian Society of Thalassemias and Haemoglobinopathies (SITE) had already published&nbsp;recommendations for first level thalassemia diagnosis, which were primarily focused on preconceptional prevention. This&nbsp;new document provides essential guidance about laboratory methods, pre- and post analytical information flows and&nbsp;about the most appropriate approach to be followed.</p>
Biochimica Clinica ; 39(2) 116-134
Documenti SIBioC - SIBioC Documents
Identificazione e caratterizzazione di mutazioni in regioni regolatorie del gene malattia della fibrosi cistica
Identification and characterization of mutations in regulatory regions of cystic fibrosis disease gene
<p>Mutation&nbsp;epidemiology is crucial for cystic fibrosis (CF) diagnosis and counselling. ~6%-7% of alleles from CF patients do not bear&nbsp;mutations in the coding regions of the Cystic Fibrosis Transmembrane Regulator (CFTR) disease gene. In these&nbsp;patients, mutations may be present in non-coding, regulatory regions of the gene as i) intronic regions (particularly in&nbsp;high conserved sequences), ii) the promoter region or iii) the area at the 3&rsquo; of the gene, which is the target of microRNA&nbsp;regulation. We studied these regions by gene sequencing in a group of CF patients with one or both unidentified&nbsp;mutations after the analysis of CFTR coding regions, and in a group of CF patients with a different clinical expression of&nbsp;disease to evaluate if mutations in such regions may have a role in modulating CF clinical expression. Our analysis&nbsp;revealed: i) a dozen of mutations (most novel) in the large promoter area of 6000 bp at the 5&rsquo; of the gene; expression&nbsp;studies in four cell lines demonstrated that a half of such mutations may have a pathogenic effect; ii) a series of mutations&nbsp;in 52 conserved sequence tags (CSTs), i.e. intronic regions with a high homology between humans and mouse;&nbsp;expression studies revealed the pathogenic effect of one of these mutations; iii) finally, three mutations in the 1500 bp&nbsp;region at the 3&rsquo; of the gene; one of this has a pathogenic role, enhancing the interaction of CFTR with two inhibitory&nbsp;microRNAs. To the best of our knowledge, this is the first example of such pathogenic mechanism in a monogenic&nbsp;disorder. On the contrary, no mutations were identified in patients with different clinical expression in any of the three<br />non-coding regions. To conclude, the sequencing of non coding regions may improve the detection rate of molecular&nbsp;analysis in CF, but functional studies are required to define the pathogenic effect of novel mutations.</p>
Biochimica Clinica ; 37(6) 465-469
Contributi scientifici - Scientific papers