Document Detail

Outcomes of preimplantation genetic diagnosis therapy in treatment of beta-thalassemia: A retrospective analysis.
MedLine Citation:
PMID:  16339706     Owner:  NLM     Status:  MEDLINE    
Thalassemia is one of the most common single-gene disorders that can be cured by hematopoietic stem cell transplantation (HCT) from a human leukocyte antigen (HLA)-identical sibling donor. In families that have an affected child, preimplantation genetic diagnosis (PGD) can be used to select an unaffected, HLA-identical embryo. In brief, this procedure requires in vitro fertilization, oocyte retrieval, fertilization, and blastomere biopsy for identification of unaffected HLA-identical embryos. After delivery, umbilical cord blood from the sibling donor is collected for HCT. The objective of this study was to determine the outcomes of families using PGD therapy for cure of beta-thalassemia and to review the limitations of PGD therapy. Families affected with beta-thalassemia who attempted PGD therapy were retrospectively identified and reviewed for indication, attempted cycles, successful pregnancy, and transplantation outcomes. Eight identified families affected by thalassemia underwent PGD. The diagnosis of their affected children included six cases of beta-thalassemia major and two cases of transfusion-dependent hemoglobin E-beta-thalassemia patients. A total of 14 cycles of PGD were attempted, ranging from one to four attempts per family. Following successful identification of HLA-identical cells, two pregnancies occurred, of which one resulted in engraftment of a beta-thalassemia child. PGD therapy offers the possibility of recruiting a suitable donor for HCT, yet is limited by financial cost due to labor-intensive techniques, low probability of obtaining an HLA-matched unaffected embryo, variable implantation capacity, and significant emotional impact. Improvements in PGD therapy's efficacy and cost will make this a more viable option for affected families.
Naveen Qureshi; Drucilla Foote; Mark C Walters; Sylvia T Singer; Keith Quirolo; Elliott P Vichinsky
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Publication Detail:
Type:  Evaluation Studies; Journal Article    
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  1054     ISSN:  0077-8923     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2005  
Date Detail:
Created Date:  2005-12-12     Completed Date:  2006-07-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  500-3     Citation Subset:  IM    
Department of Hematology-Oncology, Children's Hospital & Research Center at Oakland, 747 52nd St., 2nd floor, Oakland, CA 94609, USA.
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MeSH Terms
Cord Blood Stem Cell Transplantation*
Embryo Transfer
Fertilization in Vitro
HLA Antigens / immunology
Preimplantation Diagnosis* / economics,  psychology
Retrospective Studies
Tissue and Organ Procurement / economics,  methods*
beta-Thalassemia / diagnosis,  economics,  genetics,  surgery*
Reg. No./Substance:
0/HLA Antigens

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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