title: Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor.
abstract: Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure, developmental anomalies, and a high incidence of myelodysplasia and acute myeloid leukemia. Stem cell transplantation is the only curative treatment. In the absence of matched- sibling donor, an alternative mismatched family or matched unrelated donor can be used, but the results are inferior to the matched-sibling transplant and carry a high risk of morbidity and mortality. Preimplantation genetic diagnosis (PGD) has been increasingly used in recent years for mutation analysis for many genetic disorders and results in the birth of healthy children, saving the need for the termination of pregnancy of an affected embryo. The use of PGD for combined analysis of mutation and HLA-matching was reported for the first time in 2001. This enables the birth of an unaffected child who can serve as a donor for an affected sibling in need for stem cell transplantation. We report successful cord blood transplantation for a Fanconi anemia patient from his HLA-matched sibling, born after PGD that included mutation analysis for Fanconi anemia and HLA typing. PGD can provide an unaffected donor for a sibling affected by genetic disease in the absence of a compatible related donor.
authors.affiliation: Department of Pediatric Hematology-Oncology and BMT, Sheba Medical Center, Tel-Hashomer Affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. bellab@sheba.health.gov.il
authors.forename: Bella
authors.initials: B
authors.lastname: Bielorai
authors.forename: Mark R
authors.initials: MR
authors.lastname: Hughes
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: Arnon
authors.initials: A
authors.lastname: Nagler
authors.forename: Ron
authors.initials: R
authors.lastname: Loewenthal
authors.forename: Gideon
authors.initials: G
authors.lastname: Rechavi
authors.forename: Amos
authors.initials: A
authors.lastname: Toren
mesh_terms: D001782:Blood Donors; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D005260:Female; D005312:Fetal Blood / Q000166:cytology / Q000637:transplantation*; D005820:Genetic Testing; D006680:HLA Antigens / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D006680:HLA Antigens