Jump to ContentJump to Main Navigation
Show Summary Details

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.


IMPACT FACTOR increased in 2015: 3.017
Rank 5 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982
Impact per Publication (IPP) 2015: 2.238

249,00 € / $374.00 / £187.00*

Online
ISSN
1437-4331
See all formats and pricing

 


Select Volume and Issue

Issues

30,00 € / $42.00 / £23.00

Get Access to Full Text

Haemophilia B: From Molecular Diagnosis to Gene Therapy

Giuseppe Castaldo / Paola Nardiello / Fabiana Bellitti / Rita Santamaria / Angiola Rocino / Antonio Coppola / Giovanni di Minno / Francesco Salvatore

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 41, Issue 4, Pages 445–451, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2003.067, June 2005

Publication History

Published Online:
2005-06-01

Abstract

Thanks to its typical expression, haemophilia can be identified in writings from the second century AD. Haemophilia B, an X-linked recessive bleeding disorder due to factor IX (FIX) deficiency, has an incidence of about 1:30000 live male births. The factor 9 (F9) gene was mapped in 1984 on Xq27.1. Haemophilia is diagnosed from prothrombin time, activated partial thromboplastin time, and FIX levels. Carrier females are usually asymptomatic and must be identified only with molecular analysis. Linkage analysis of F9 polymorphisms is rapid and inexpensive but limited by non-informative families, recombinant events, and the high incidence of germline mutations; thus, various procedures have been used for the direct scan of F9 mutations. We set up a novel denaturing high performance liquid chromatographic procedure to scan the F9 gene. This rapid, reproducible procedure detected F9 mutations in 100% of a preliminary cohort of 18 haemophilia B patients. Parallel to the development of more efficient diagnostic tools, the life expectancy and reproductive fitness of haemophilic patients have greatly improved and will continue to improve thanks to the use of less immunogenic recombinant FIX. Hopefully, new approaches based on gene therapy now being evaluated in clinical trials will revolutionise haemophilia B treatment.

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Loredana Bury, Paola Nardiello, Tiziana Fierro, Federica Zarrilli, Antonio Coppola, Giuseppe Castaldo, and Paolo Gresele
Journal of the American Geriatrics Society, 2016, Volume 64, Number 1, Page 230
[2]
J. Windyga, T. Lissitchkov, O. Stasyshyn, V. Mamonov, H. Ghandehari, M. Chapman, S. Fritsch, W.-Y. Wong, B. G. Pavlova, and B. E. Abbuehl
Haemophilia, 2014, Volume 20, Number 5, Page 651
[3]
Tengguo Li, Connie H. Miller, Jennifer Driggers, Amanda B. Payne, Dorothy Ellingsen, and W. Craig Hooper
American Journal of Hematology, 2014, Volume 89, Number 4, Page 375
[4]
Giuseppe Castaldo, Manuela Scorza, Ausilia Elce, Sonia Giordano, Renato Liguori, and Germano Guerra
Journal of Maternal-Fetal and Neonatal Medicine, 2013, Volume 26, Number S2, Page 13
[5]
J. Windyga, T. Lissitchkov, O. Stasyshyn, V. Mamonov, L. Rusen, J. L. Lamas, M.-S. Oh, M. Chapman, S. Fritsch, B. G. Pavlova, W.-Y. Wong, and B. E. Abbuehl
Haemophilia, 2014, Volume 20, Number 1, Page 15
[6]
Antonella Fuccio, Mariangela Iorio, Felice Amato, Ausilia Elce, Rosaria Ingino, Mirella Filocamo, Giuseppe Castaldo, Francesco Salvatore, and Rossella Tomaiuolo
The Journal of Molecular Diagnostics, 2011, Volume 13, Number 6, Page 648
[7]
Giuseppe Castaldo, Francesca Lembo, and Rossella Tomaiuolo
Clinical Chemistry and Laboratory Medicine, 2010, Volume 48, Number 7
[8]
Jun Cao, Chang-zhen Shang, Li-hong Lü, De-chuan Qiu, Meng Ren, Ya-jin Chen, and Jun Min
Acta Pharmacologica Sinica, 2010, Volume 31, Number 11, Page 1478
[9]
K. E. BRUMMEL-ZIEDINS, R. F. BRANDA, S. BUTENAS, and K. G. MANN
Journal of Thrombosis and Haemostasis, 2009, Volume 7, Number 5, Page 825
[10]
K. ØVLISEN, A. T. KRISTENSEN, and M. TRANHOLM
Haemophilia, 2008, Volume 14, Number 2, Page 248

Comments (0)

Please log in or register to comment.