Preimplantation diagnosis: efficient tool for human leukocyte antigen matched bone marrow transplantation for thalassemia

Abstract

Thalassemia is among the most frequent indications for preimplantation genetic diagnosis (PGD) to allow at risk couples reproducing without fear of having an affected child. In addition, those already having the affected child, have also the option to produce an unaffected offspring that may be also a complete human leukocyte antigen (HLA) match to affected child to ensure successful bone marrow transplantation. We present here the results of retrospective analysis of 293 PGD cycles for thalassemia, including 144cases of simultaneous HLA typing, resulting in birth of 70 thalassemia-free children and 12 unaffected HLA matched ones, providing their cord blood and/or bone marrow for transplantation treatment of their affected siblings. The present overall experience includes successful cord blood or bone marrow transplantation in more than three dozens of cases with HLA matched stem cells obtained from children born after PGD, demonstrating that PGD is an efficient approach for improving success of bone marrow transplantation treatment for thalassemia.   植入前遗传学诊断（PGD）是地中海贫血（地贫）最常用的疗法，该病患者夫妇无须担心孕儿受到感染。此外，如果已经怀上受到感染的宝宝，他们也可有选择性再生育一个未受感染的后代，提供完全匹配的HLA，来确保骨髓成功移植。本文将提供293个地贫病例的PGD周期诊断结果，包括144例HLA同时配型，有70例宝宝无地贫出生和12例未受感染的HLA配型宝宝出生。将这些健康宝宝的脐带血和/或骨髓取出以完成对他们同胞的移植手术，通过使用经诊断后的，出生宝宝身上取出的HLA配型干细胞，成功完成36例宝宝的脐带或骨髓移植手术。结果表明PGD能有效提高地贫患儿骨髓移植手术的成功率。

Keywords

• PGD for thalassemia
• preimplantation HLA typing
• bone marrow transplantation.