GATA1 相关血细胞减少症 (GRC) 的特点是血小板减少症和/或轻度至重度贫血。造血干细胞移植（HSCT）是 GRC 患者的一种治疗选择。我们在一名患有 GATA1 相关血细胞减少症的男孩中发现了一种新的致病性变异 (GATA1: c.1019delG)。然后我们在这个 GRC 家族中进行了植入前基因检测 (PGT)。镶嵌胚胎移植后，生下了与先证者健康且HLA相容的婴儿。先证者是一名6岁男孩，自3岁起被诊断患有输血依赖性贫血。全外显子组测序（WES）显示，先证者的GATA1中存在半合子变异c.1019delG，该变异遗传自其母亲。他的父母决定接受PGT，以生育健康且HLA 相容的后代。对活检的滋养外胚层 (TE) 细胞进行全基因组扩增 (WGA) 后，进行基于下一代测序 (NGS) 的 PGT 来分析胚胎的染色体非整倍性、目标突变和 HLA 分型。有 3 个胚胎与先证者 HLA 匹配。 3个胚胎基因型分别为杂合变异、半合变异、正常。经过杂合、嵌合部分三体性 (chr)16 和 HLA 匹配的胚胎移植后，诞生了一个健康的婴儿，其 HSCT 与先证者相容。基于 NGS 的 PGT-HLA 是治疗 GATA1 相关性的一种有价值的方法由 GATA1 变异引起的血细胞减少，或其他血液疾病、肿瘤和免疫疾病。此外，我们的研究再次证实嵌合胚胎移植会带来健康的后代。© 2024。作者。

GATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell transplantation (HSCT) is a healing therapeutic choice for GRC patients. We identified a novel pathogenic variant (GATA1: c.1019delG) in a boy with GATA1-related cytopenia. Then we performed preimplantation genetic testing (PGT) in this GRC family. After a mosaic embryo transfered, a healthy and HLA-compatible with the proband baby was delivered.The proband is a 6-year-old boy who was diagnosed to have transfusion-dependent anaemia since 3 year old. Whole-exome sequencing (WES) showed that the proband has a hemizygous variant c.1019delG in GATA1, which is inherited from his mother. His parents decided to undergo PGT to have a health and HLA-compatible offspring. After whole genome amplification (WGA) of biopsied trophectoderm (TE) cells, next generation sequencing (NGS)-based PGT was preformed to analyse embryos on chromosomal aneuploidy, target mutation and HLA typing. There were 3 embryos HLA-matched to the proband. The genotypes of the 3 embryos were heterozygous variant, hemizygous variant, normal respectively. After a heterozygous, mosaic partial trisomy (chr)16, and HLA-matched embryo transfer, a healthy baby was delivered and whose HSCT is compatible with the proband.NGS-based PGT-HLA is a valuable procedure for the treatment of GATA1-related cytopenia caused by GATA1 variants, or other haematological disorders, oncological and immunological diseases. Furthermore, our study reconfirms that mosaic embryos transfer would bring healthy offspring.© 2024. The Author(s).