Kurekci Emin, Küpesiz Alphan, Anak Sema, Öztürk Gülyüz, Gürsel Orhan, Aksoylar Serap, Ileri Talia, Kuşkonmaz Barış, Eker İbrahim, Cetin Mualla, Tezcan Karasu Gülsün, Kaya Zühre, Fışgın Tunç, Ertem Mehmet, Kansoy Savaş, Yeşilipek Mehmet Akif
Department of Pediatric Hematology, Lösante Hospital Ankara, Ankara, Turkey.
Department of Pediatric Hematology and Oncology, Akdeniz University Medical Faculty, Antalya, Turkey.
Biol Blood Marrow Transplant. 2017 May;23(5):790-794. doi: 10.1016/j.bbmt.2017.02.002. Epub 2017 Feb 10.
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 × 10 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.
植入前基因诊断涉及对通过体外受精获得的胚胎进行遗传疾病诊断、选择健康胚胎并将胚胎移植到母亲子宫内。植入前基因诊断不仅用于避免生育患病儿童的风险，还能通过人类白细胞抗原（HLA）配型，为需要骨髓移植的患病同胞预先选择潜在的HLA基因相同的健康供体后代。在此，我们分享了自2008年以来在土耳其通过该技术出生的同胞作为供体的52例患有不同良性和恶性血液学或代谢疾病或免疫缺陷患者的造血干细胞移植结果。移植时患者的中位年龄为8岁（范围3至16岁），供体的中位年龄为2岁（范围0.5至6岁）。造血干细胞移植最常见的指征是重型地中海贫血（所有患者中的42例，占80%）。所有移植的干细胞来源均为骨髓。在37例移植中，还使用了同一供体的脐带血。52例患者中有50例实现了完全植入，平均每千克受体体重输入4.6×10个CD 34细胞。96%的患者通过造血干细胞移植治愈，无任何并发症。仅2例重型地中海贫血患者出现原发性植入失败。所有供体和患者均存活，健康状况良好。通过HLA配型的植入前基因诊断为需要移植但缺乏HLA基因相同供体的患者提供了挽救生命的机会。
