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Maria Stella Graziani

Deputy Director
Martina Zaninotto

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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
☩Howard Morris Australia
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
☩Jill Tate Australia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


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Giuseppe Agosta

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Arianna Lucini Paioni
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email: biochimica.clinica@sibioc.it



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BC: Articoli scritti da G. Barberio

Individuazione e identificazione di una nuova variante emoglobinica durante la quantificazione dell’emoglobina glicata
Incidental detection of a new hemoglobin beta variant performing HbA1c measurement
<p>Incidental detection of a new hemoglobin beta variant performing HbA1c measurement. Hemoglobin &alpha; and &beta; chain variants can be incidentally detected during the glycated hemoglobin (HbA1c) determination. A 58-year-old female was investigated for HbA1c with Tera 3 Capillarys system (CE, Sebia). Quantification of HbA1c was invalidated by the presence of a double peak in the HbA0 zone. Standard high performance liquid chromatography (HPLC), performed with VARIANT IITM Analyzer (Biorad), did not separate the variant from Hb A0. &beta;-globin gene sequencing showed a heterozygous variation of nucleotide sequence HBB: c.376C&gt;A; beta 125 (H3) Pro&gt;Thr. The new variant, called Hb-Novara, was found also in the daughter of the proband, associated with an alpha-talassemic trait. The hemoglobin stability tests of both subjects were normal. A combination of different technologies (such as HPLC and CE) can be useful in the detection of new hemoglobin variants. Although Hb-Novara seems to be asymptomatic, it could produce relevant hematological phenotypes when associated with &alpha; or &beta; chain defects</p><p>&nbsp;</p>
Biochimica Clinica ; 42(4) e56-e58
Casi clinici - Case Report
 
Le emoglobinopatie in Italia. Parte I: Nosografia clinica ed epidemiologia
Hemoglobinopathies in Italy. Part I: Clinical nosography and epidemiology
G. Barberio  |  G. Ivaldi  | 
<p>Disorders of globin gene, i.e. thalassemias and hemoglobin variants, are the most frequent genetic alterations among Italians. Research, prevention, diagnosis and treatment of these defects have attracted growing interest in the last 70 years. This review provides an update on the diagnosis of these defects, considering their high level of genotype heterogeneity and, hence, of phenotypic variability. The recent people migrations have contributed to making our population more heterogeneous, thereby presenting new problems in the prevention of these defects. The increase in the types of hemoglobin disorders observed in preventive screening tests performed in hundreds of clinical laboratories is also due to the technological improvement over the last 30 years.</p>
Biochimica Clinica ; 40(2) 078-095
Rassegne - Reviews
 
Le emoglobinopatie in Italia. Parte II: Prevenzione e diagnostica di laboratorio
Hemoglobinopathies in Italy. Part II: Prevention and laboratory protocols
G. Barberio  |  G. Ivaldi  | 
<p>This second part of the review deals with the diagnostic procedures and the levels where tests for haemoglobin diseases have to be performed, with a view on the recent changes in technology, legislation and epidemiology. In particular, we focused on the diagnostic pathways for hemoglobinopaties in specialised laboratories, with special attention to appropriateness and harmonization of processes. These aspects may be greatly influential in determining diagnostic conclusions.</p>
Biochimica Clinica ; 40(2) 096-107
Rassegne - Reviews
 
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
 
Inaccurate HbA1c determination caused by Hb Aix-les-Bains, a rare hemoglobin variant
Biochimica Clinica ; 37(2) 131-132
Lettere all'Editore - Letters to the Editor