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