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首页> 外文期刊>Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation >Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis and Human Leukocyte Antigen Typing for Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study
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Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis and Human Leukocyte Antigen Typing for Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study

机译：利用造血干细胞移植使用预催化遗传诊断和人白细胞抗原键入人白细胞抗原匹配兄弟供体：土耳其多中心研究

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Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range,.5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbiliCal cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 x 10(6) CD 34(+) cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor. (C) 2017 American Society for Blood and Marrow Transplantation.
机译：Prevantation遗传诊断涉及通过体外施肥，选择健康胚胎的胚胎中遗传疾病的诊断，以及将胚胎转移到母亲的子宫中。遗传遗传诊断不仅可以避免受影响儿童的风险，而且还提供了使用HLA匹配，预选潜在的HLA-基因istical健康供体后代，适用于受影响的兄弟姐妹，他需要骨髓移植。在这里，我们分享造血干细胞移植结果52名不同良性和恶性血液或代谢疾病或免疫缺陷的患者，其捐赠者自2008年以来在土耳其出生的兄弟姐妹。患者在移植时的中位年龄是8年（范围，3至16岁），捐助者的中位年龄为2年（范围，.5至6年）。 HSCT最常见的迹象是地中海贫血（所有患者42例，80％）。所有移植中的干细胞源是骨髓。在37中，还使用相同供体的脐带脐血。在52名患者中的50例中，通过每千克受体重量的4.6×10（6）CD 34（+）细胞的平均值来实现全植入。百分之九六患者通过造血干细胞移植治愈，没有任何并发​​症。仅在2名患有2名患有2名患有2名患有的初级植入失败。所有的捐助者和患者都具有良好的健康状况。与HLA匹配的遗传遗传诊断为需要移植但缺乏HLA Genoidentical捐赠者提供救生机会。 （c）2017年美国血液和骨髓移植协会。

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