临床血液学杂志2024,Vol.37Issue(7) :512-514.DOI:10.13201/j.issn.1004-2806.2024.07.014

PGT-HLA联合脐血移植治疗重型β地中海贫血1例

PGT-HLA combined with umbilical cord blood transplantation in the treatment of beta-thalassemia major:A case report

魏自秀 马倩英 马转珍 成娟
临床血液学杂志2024,Vol.37Issue(7) :512-514.DOI:10.13201/j.issn.1004-2806.2024.07.014

PGT-HLA联合脐血移植治疗重型β地中海贫血1例

PGT-HLA combined with umbilical cord blood transplantation in the treatment of beta-thalassemia major:A case report

魏自秀 1马倩英 1马转珍 2成娟2
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作者信息

  • 1. 兰州大学第一临床医学院(兰州,730030)
  • 2. 兰州大学第一医院血液科
  • 折叠

摘要

为探索重型β地中海贫血(β-thalassemia major,β-TM)患儿的治愈方案,改善此类患儿的预后及生存,现回顾性报道1例β-TM患儿的临床资料及诊疗经过.患儿,女,5岁9个月,出生后3个月余在外院诊断为β-TM,接受常规输血及祛铁治疗,其父母通过HLA配型胚胎植入前遗传学检测技术诞下二胎并成功为患儿进行了脐血移植.

Abstract

To explore the curative options for children with β-thalassemia major(β-TM)and to improve the prognosis and survival of these children,we retrospectively report the clinical data,diagnostic,and therapeutic procedures of a child with β-TM.The child,a female,aged 5 years and 9 months,was diagnosed with β-TM at another hospital when she was three months old,and was treated with blood transfusion and iron chelation therapy for the symptomatic treatment.The parents gave birth to a second child by preimplantation genetic testing with HLA matching(PGT-HLA)and successfully performed cord blood transplantation for the child.

关键词

重型/β地中海贫血/人白细胞抗原/植入前遗传学检测/脐血移植

Key words

β-thalassemia major/human leukocyte antigen/preimplantation genetic testing/cord blood transplantation

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基金项目

甘肃省药品监督管理局科研项目(2021GSMPA009)

出版年

2024
临床血液学杂志
华中科技大学同济医学院血液病研究所 北京医科大学血液病研究所

临床血液学杂志

CSTPCD
影响因子:1.063
ISSN:1004-2806
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