医学
脐带
造血
范科尼贫血
兄弟姐妹
救世主兄弟
人类白细胞抗原
贫血
脐带血
免疫学
遗传学
内科学
干细胞
疾病
抗原
DNA
生物
造血干细胞移植
DNA修复
发展心理学
心理学
作者
Éliane Gluckman,Hal E. Broxmeyer,Arleen D. Auerbach,Henry S. Friedman,Gordon C. C. Douglas,A Devergié,Hélène Espérou,Dominique Thierry,Gerard Socié,Pierre Lehn,Scott Cooper,Denis English,Joanne Kurtzberg,Judith Bard,Edward A. Boyse
标识
DOI:10.1056/nejm198910263211707
摘要
The clinical manifestations of Fanconi’s anemia, an autosomal recessive disorder, include progressive pancytopenia, a predisposition to neoplasia, and nonhematopoietic developmental anomalies [1-3]. Hypersensitivity to the clastogenic effect of DNA-cross-linking agents such as diepoxybutane acts as a diagnostic indicator of the genotype of Fanconi’s anemia, both prenatally and postnatally [3-6]. Prenatal HLA typing has made it possible to ascertain whether a fetus is HLA-identical to an affected sibling [7]. We report here on hematopoietic reconstitution in a boy with severe Fanconi’s anemia who received cryo-preserved umbilical-cord blood from a sister shown by prenatal testing to be unaffected by the disorder, to have a normal karyotype, and to be HLA-identical to the patient. We used a pretransplantation conditioning procedure developed specifically for the treatment of such patients [8]; this technique makes use of the hypersensitivity of the abnormal cells to alkylating agents that cross-link DNA [9,10] and to irradiation [11] In this case, the availability of cord blood obviated the need for obtaining bone marrow from the infant sibling. This use of cord blood followed the suggestion of one of us that blood retrieved from umbilical cord at delivery, usually discarded, might restore hematopoiesis – a proposal supported by preparatory studies by some of us [12] and consistent with reports on the presence of hematopoietic stem and multipotential (CFU-GEMM), erythroid (BFU-E), and granulocyte-macrophage (CFU-GM) progenitor cells in human umbilical-cord blood (see the references cited by Broxmeyer et al. [12]).
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