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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

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Andrea di Bello
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282


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

Articoli con TAG: emoglobinopatie

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 ; 17(1)
Rassegne - Reviews
Le emoglobinopatie in Italia. Parte I: Nosografia clinica ed epidemiologia
Hemoglobinopathies in Italy. Part I: Clinical nosography and epidemiology
<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
<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
Una variante emoglobinica co-migrante con le normali frazioni emoglobiniche in HPLC
A hemoglobin variant co-migrating with normal hemoglobin fractions in HPLC
<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