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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. Coppola

Emofilia, come si concluderà la storia?
Hemophilia, how will end the story?
<p>Hemophilia A (HA) and B (HB) are the most frequent inherited bleeding&nbsp;disorders caused by defects in the F8C and F9 genes that encode coagulation factor VIII and factor IX, respectively.&nbsp;Both HA and HB are X-linked recessive diseases and have an incidence of 1:5000 and 1:30,000 males, respectively.&nbsp;The diagnosis is based on normal prothrombin time, altered activated partial thromboplastin time and reduced activity<br />of factor VIII or factor IX in plasma. Furthermore, laboratory contributes to identify the inhibitor (an immunoglobulin&nbsp;against the factor that some hemophilic patients develop during therapy) and to reveal acquired hemophilia. Carrier&nbsp;females of HA and HB are tipically asymptomatic and can be identified only by molecular analysis; their evaluation is&nbsp;important, as one third of cases of hemophilia is due to novel mutations and in these cases the mother (and&nbsp;consanguineous females) of the proband have no risk to be carrier. Both diseases are due to a myriad of different&nbsp;mutations (mostly private), so that the molecular diagnosis is based on scanning techniques or gene sequencing.&nbsp;Given the number of hemophilic patients that experience severe perinatal complications, high-risk couples usually&nbsp;require prenatal diagnosis. We revise here our experience on 50 prenatal diagnoses of hemophilia. The clinical&nbsp;heterogeneity of hemophilic patients prompted many groups to study prothrombotic gene variants in these subjects&nbsp;to investigate whether such variants modify the clinical expression of disease. Finally, therapy (using recombinant&nbsp;factors) and, in a near future, gene therapy will change the natural history of hemophilic patients.</p>
Biochimica Clinica ; 37(6) 454-460
Rassegne - Reviews