Premium
Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA‐matched donor
Author(s) -
Bielorai Bella,
Hughes Mark R.,
Auerbach Arleen D.,
Nagler Ar,
Loewenthal Ron,
Rechavi Gideon,
Toren Amos
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20201
Subject(s) - fanconi anemia , savior sibling , transplantation , sibling , cord blood , medicine , human leukocyte antigen , hematopoietic stem cell transplantation , immunology , preimplantation genetic diagnosis , umbilical cord , pregnancy , genetics , biology , gene , psychology , developmental psychology , antigen , dna repair
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. Am. J. Hematol. 77:397–399, 2004. © 2004 Wiley‐Liss, Inc.