Skip Navigation


Hum. Reprod. Advance Access originally published online on January 29, 2004
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow All Versions of this Article:
19/3/700    most recent
deh153v1
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (31)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Van de Velde, H.
Right arrow Articles by Liebaers, I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Van de Velde, H.
Right arrow Articles by Liebaers, I.
Social Bookmarking
 Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 19, No. 3, 700-708, March 2004
© 2004 European Society of Human Reproduction and Embryology

Novel universal approach for preimplantation genetic diagnosis of {beta}-thalassaemia in combination with HLA matching of embryos

H. Van de Velde1,5, I. Georgiou2, M. De Rycke3, R. Schots4, K. Sermon3, W. Lissens3, P. Devroey1, A. Van Steirteghem1 and I. Liebaers3

Centres for 1 Reproductive Medicine and 3 Medical Genetics, and 4 Department of Medical Oncology and Hematology, Medical School and University Hospital, Vrije Universiteit Brussel, Belgium and 2 Genetics and IVF Unit, Department of Obstetrics and Gynecology, Medical School, University of Ioannina, Greece

5 To whom correspondence should be addressed at Centre for Reproductive Medicine, AZ-VUB, Laarbeeklaan 101, 1090 Brussels, Belgium. e-mail: hilde.vandevelde{at}az.vub.ac.be

BACKGROUND: {beta}-Thalassaemia results from co-inheritance of two mutant {beta}-globin alleles. Allogeneic cord blood cell transplantation (CBT) from an HLA-identical sibling donor is an excellent treatment option for {beta}-thalassaemia. In families with an affected child and willing to have another child, IVF followed by preimplantation genetic diagnosis (PGD) can be applied to exclude affected embryos. Furthermore, healthy embryos could be HLA matched with the affected child so that cord blood from the future newborn can be used to transplant the affected sibling. METHODS: We developed an indirect single-cell HLA typing technique based on the use of a bank of seven microsatellite markers within the HLA locus from which four informative and evenly distributed markers were selected. RESULTS: The methodology was validated in three {beta}-thalassaemia families having six ovarian stimulation cycles in view of IVF and PGD. Six PGD cycles were performed in two families. On 58 embryos tested, the combined PCR was successful in 54 (93%). Two transfers were done and one clinical pregnancy was obtained. Using confirmatory analysis on 50 embryos, the accuracy for HLA typing was 100%. CONCLUSION: This strategy offers a new therapeutic option for patients with {beta}-thalassaemia and other monogenic diseases that can be cured with CBT.

Key words: {beta}-thalassaemia/HLA-identical/microsatellite markers/preimplantation genetic diagnosis


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
J. Clin. Endocrinol. Metab.Home page
R. L. Barbieri
Update in Female Reproduction: A Life-Cycle Approach
J. Clin. Endocrinol. Metab., July 1, 2008; 93(7): 2439 - 2446.
[Abstract] [Full Text] [PDF]


Home page
Stem CellsHome page
G. de Wert, I. Liebaers, and H. Van de Velde
The Future (R)evolution of Preimplantation Genetic Diagnosis/Human Leukocyte Antigen Testing: Ethical Reflections
Stem Cells, September 1, 2007; 25(9): 2167 - 2172.
[Abstract] [Full Text] [PDF]


Home page
Stem CellsHome page
J. Smythe, S. Armitage, D. McDonald, D. Pamphilon, M. Guttridge, J. Brown, A. Green, C. Brown, R. M. Warwick, A. Lankester, et al.
Directed Sibling Cord Blood Banking for Transplantation: The 10-Year Experience in the National Blood Service in England
Stem Cells, August 1, 2007; 25(8): 2087 - 2093.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
M.C. Magli, L. Gianaroli, N. Grieco, E. Cefalu, G. Ruvolo, and A.P. Ferraretti
Cryopreservation of biopsied embryos at the blastocyst stage
Hum. Reprod., October 1, 2006; 21(10): 2656 - 2660.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
F. Fiorentino, A. Biricik, A. Nuccitelli, R. De Palma, S. Kahraman, M. Iacobelli, V. Trengia, D. Caserta, M.A. Bonu, A. Borini, et al.
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders
Hum. Reprod., March 1, 2006; 21(3): 670 - 684.
[Abstract] [Full Text] [PDF]


Home page
Ann. N. Y. Acad. Sci.Home page
A. KULIEV, S. RECHITSKY, I. TUR-KASPA, and Y. VERLINSKY
Preimplantation Genetics: Improving Access to Stem Cell Therapy
Ann. N.Y. Acad. Sci., November 1, 2005; 1054(1): 223 - 227.
[Abstract] [Full Text] [PDF]


Home page
Ann. N. Y. Acad. Sci.Home page
N. QURESHI, D. FOOTE, M. C. WALTERS, S. T. SINGER, K. QUIROLO, and E. P. VICHINSKY
Outcomes of Preimplantation Genetic Diagnosis Therapy in Treatment of {beta}-Thalassemia: A Retrospective Analysis
Ann. N.Y. Acad. Sci., November 1, 2005; 1054(1): 500 - 503.
[Abstract] [Full Text] [PDF]


Home page
J. Med. EthicsHome page
K Devolder
Preimplantation HLA typing: having children to save our loved ones
J. Med. Ethics, October 1, 2005; 31(10): 582 - 586.
[Abstract] [Full Text] [PDF]


Home page
NEJMHome page
D. Rund and E. Rachmilewitz
{beta}-Thalassemia
N. Engl. J. Med., September 15, 2005; 353(11): 1135 - 1146.
[Full Text] [PDF]


Home page
ASH Education BookHome page
A. R. Cohen, R. Galanello, D. J. Pennell, M. J. Cunningham, and E. Vichinsky
Thalassemia
Hematology, January 1, 2004; 2004(1): 14 - 34.
[Abstract] [Full Text] [PDF]



Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.