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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

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Chiara Riva
Biomedia srl
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Tel. 0245498282


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

BC: Articoli scritti da G. Ivaldi

Varianti instabili dell’emoglobina: una sfida per il Laboratorio?
Unstable hemoglobin variants: a challenge for the laboratory?
G. Barberio  |  G. Ivaldi  | 
<p>The unstable variants represent a subset of rare or very rare defects in the heterogeneous area of hemoglobinopathies; however they constitute a very important group of variants for the related clinical aspects. They exhibit a variety of manifestations that are characterized in many cases by more or less important hemolytic anemias able to attract the attention of clinicians. Actually, the signs produced by the reduced survival of erythrocytes in an adult or often in a child, can have different origins, being the consequence of an alteration of the structure of the erythrocyte membrane, produced by enzymatic or other defects. More than 150 hemoglobin variants, because of their in vitro and/or in vivo behavior, are generically classified as unstable and can potentially produce hemolytic anemia in various conditions and forms. Generally, a single amino acid substitution can produce an alteration in the primary structure of hemoglobin that promotes the formation of insoluble precipitates within the red blood cells and thus a hemolytic effect. For these particular diseases, the role of the laboratory is essential to differentiate and characterize the causes of the hemolytic anemias. The laboratory contributes to the diagnosis at different levels utilizing continuously evolving methodologies, while m</p>
Biochimica Clinica ; 46(2) 096-116
Rassegne - Reviews
Emoglobinopatie: quadri clinici e ruolo del laboratorio tra realtà e prospettive future
Hemoglobinopathies: clinical pictures and role of the laboratory between reality and future prospects.
<p>The term hemoglobinopathies generally includes all the defects of the globin genes. In most of the cases, these defects are transmitted as autosomal recessive patterns and are in the heterozygous state, clinically asymptomatic. A substantial variability in hematological and clinical phenotypes is observed when defects occur in the homozygous state, in heterozygous compounds or are associated with variations in non-globin genes. The marked hematological, molecular and clinical heterogeneity of hemoglobinopathies requires experience and competence for the use of different technologies, the organization of the diagnostic procedures and for the clinical management of patients as well. There is no doubt that the numerous hemoglobin variants and different combinations observed nowadays are the result of migratory movements that have taken place in recent decades with the arrival in Italy and Europe of important numbers of subjects, mostly from territories where hemoglobin defects are particularly present. The laboratory tests, defined as 1st level or primary screen, are still the fundamental step of the diagnostic approach to hemoglobinopathies and cannot be avoided. However, confirmatory tests and molecular characterization are always required for a diagnostic approach characterized by the combined use of hematological, biochemical and molecular techniques. The laboratory will thus be able to provide the clinician with adequate elements for patient management, in the different contexts of prevention, counseling or therapeutic choices. The laboratory dedicated to hemoglobinopathies is oriented towards precision medicine by acting on levels of increasing complexity, thus providing useful knowledge for the benefit of personalized medicine.</p>
Biochimica Clinica ; 45(2) 123-140
Rassegne - Reviews
Una variante emoglobinica co-migrante con le normali frazioni emoglobiniche in HPLC
A hemoglobin variant co-migrating with normal hemoglobin fractions in HPLC
A. Guastini  |  LA. Rizzi  |  F. Santoni  |  S. Vinci  |  G. Barberio  |  G. Ivaldi  | 
<p>To date, approximately 1700 hemoglobin (Hb) variants have been identified, many of which are clinically silent. We report a hemoglobin variant visible only with capillary electrophoresis (CE). In a 65-year-old woman, using a high-performance liquid chromatography system (HPLC), HbF and HbA2were 19.3% and 0.7%, respectively, and no abnormal peaks were observed. Subsequent analysis by capillary electrophoresis (CE) showed an atypical profile with a clear presence of an abnormal Hb in the &quot;zone Z14&quot;. The molecular investigation of the globin genes confirmed a variation of the alpha1 c.271 A&gt; G gene corresponding to Hb Sudbury. The HPLC analysis initially led to an incorrect interpretation of defects on gamma genes with production of hereditary persistence of HbF (HPFH) and on delta genes, a delta thalassemia. The combination of different technologies (such as CE and HPLC) can certainly be useful to detect new variants of hemoglobin and allowsmore correct diagnostic conclusions.</p>
Biochimica Clinica ; 44(3) e027-e029
Casi Clinici - Case Report
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
Valutazione multicentrica dell’analizzatore Tosoh G8 per la misura dell’emoglobina A2 e dell’emoglobina F
Multicenter evaluation of the Tosoh G8 analyzer for determination of hemoglobin (Hb) A2 and F
<p>The analytical performance of the new Tosoh automated analyzer HLC-723 G8 (-thalassemia analysis mode) to determine hemoglobin variants and to measure HbA2 and HbF in human blood was evaluated in three Italian centres. The within- and between-run imprecision for HbA2 were good, with CV between 0.2% and 1.8% and between 0.9% and 5.4%, respectively. The CV for HbF was between 0.4% and 9.8% (within-run) and beetwen 0.8% and 13.1% (between-run). The comparability of HbA2 measurements between different centres was excellent (r=0.99), but a significant bias in comparison with the previous version of the instrument was noted. Experiments to test the HbA2 stability in blood confirmed that blood samples stored at -80 &deg;C were stable for at least 4 months and that storage at -20 &deg;C is not recommended. In conclusion, the Tosoh G8 analyser was found reliable and robust and, therefore, suitable for the measurement of HbA2 and HbF in human blood.</p>
Biochimica Clinica ; 37(1) 30-35
Contributi Scientifici - Scientific Papers