PMID- 16339706
OWN - NLM
STAT- MEDLINE
DCOM- 20060713
LR  - 20191210
IS  - 0077-8923 (Print)
IS  - 0077-8923 (Linking)
VI  - 1054
DP  - 2005
TI  - Outcomes of preimplantation genetic diagnosis therapy in treatment of 
      beta-thalassemia: A retrospective analysis.
PG  - 500-3
AB  - 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.
FAU - Qureshi, Naveen
AU  - Qureshi N
AD  - Department of Hematology-Oncology, Children's Hospital & Research Center at 
      Oakland, 747 52nd St., 2nd floor, Oakland, CA 94609, USA. nqureshi@mail.cho.org
FAU - Foote, Drucilla
AU  - Foote D
FAU - Walters, Mark C
AU  - Walters MC
FAU - Singer, Sylvia T
AU  - Singer ST
FAU - Quirolo, Keith
AU  - Quirolo K
FAU - Vichinsky, Elliott P
AU  - Vichinsky EP
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - United States
TA  - Ann N Y Acad Sci
JT  - Annals of the New York Academy of Sciences
JID - 7506858
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Blastomeres
MH  - *Cord Blood Stem Cell Transplantation
MH  - Embryo Transfer
MH  - Female
MH  - Fertilization in Vitro
MH  - HLA Antigens/immunology
MH  - Humans
MH  - Male
MH  - Pregnancy
MH  - *Preimplantation Diagnosis/economics/psychology
MH  - Retrospective Studies
MH  - Siblings
MH  - Tissue and Organ Procurement/economics/*methods
MH  - beta-Thalassemia/diagnosis/economics/genetics/*surgery
EDAT- 2005/12/13 09:00
MHDA- 2006/07/14 09:00
CRDT- 2005/12/13 09:00
PHST- 2005/12/13 09:00 [pubmed]
PHST- 2006/07/14 09:00 [medline]
PHST- 2005/12/13 09:00 [entrez]
AID - 1054/1/500 [pii]
AID - 10.1196/annals.1345.060 [doi]
PST - ppublish
SO  - Ann N Y Acad Sci. 2005;1054:500-3. doi: 10.1196/annals.1345.060.