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本文引用的文献

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Related and unrelated donor transplantation for β-thalassemia major: results of an international survey.无关和相关供者移植治疗重型β地中海贫血：国际调查结果。
Blood Adv. 2019 Sep 10;3(17):2562-2570. doi: 10.1182/bloodadvances.2019000291.
2
Transplant Outcomes in Beta-Thalassemia Major Patients Receiving Combined Granulocyte Colony-Stimulating Factor-Primed Bone Marrow and Cord Blood Graft Compared to Granulocyte Colony-Stimulating Factor-Primed Bone Marrow Alone.与单独使用粒细胞集落刺激因子预处理的骨髓移植相比，接受粒细胞集落刺激因子预处理的骨髓和脐血联合移植的重型β地中海贫血患者的移植结局。
Acta Haematol. 2018;140(1):20-29. doi: 10.1159/000490407. Epub 2018 Aug 2.
3
Haploidentical haematopoietic stem cell transplantation for thalassaemia major based on an FBCA conditioning regimen.基于 FBCA 预处理方案的重型地中海贫血的单倍体造血干细胞移植。
Br J Haematol. 2018 Aug;182(4):554-558. doi: 10.1111/bjh.15438. Epub 2018 Jul 1.
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[Progress of gene editing technologies and prospect in traditional Chinese medicine].
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Thalassemia Major: Transplantation or Transfusion and Chelation.重型地中海贫血：移植或输血与螯合疗法
Hematol Oncol Stem Cell Ther. 2017 Dec;10(4):290-298. doi: 10.1016/j.hemonc.2017.05.022. Epub 2017 Jun 20.
6
Thalassemia Minor and Major: Current Management.地贫轻型和重型：当前的管理。
Indian J Pediatr. 2017 Aug;84(8):607-611. doi: 10.1007/s12098-017-2325-1. Epub 2017 Apr 24.
7
The prevalence of thalassemia in mainland China: evidence from epidemiological surveys.中国大陆地区地中海贫血的流行情况：来自流行病学调查的证据。
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One-Step Biallelic and Scarless Correction of a β-Thalassemia Mutation in Patient-Specific iPSCs without Drug Selection.在无药物筛选的患者特异性诱导多能干细胞中对β地中海贫血突变进行一步双等位基因且无痕校正
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10
Detection of paternally inherited fetal point mutations for β-thalassemia in maternal plasma using simple fetal DNA enrichment protocol with or without whole genome amplification: an accuracy assessment.使用简单的胎儿DNA富集方案（有无全基因组扩增）检测母血中父源遗传的胎儿β地中海贫血点突变：准确性评估
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中国重型β地中海贫血的流行病学与治疗

Epidemiology and treatment of beta thalassemia major in China.

作者信息

Xu Xiaoxiao, Wu Xuedong

机构信息

Departments of pediatrics Nanfang Hospital Southern Medical University Guangzhou Guangdong China.

出版信息

Pediatr Investig. 2019 Oct 28;4(1):43-47. doi: 10.1002/ped4.12154. eCollection 2020 Mar.

DOI:10.1002/ped4.12154
PMID:32851341
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7331292/
Abstract

Thalassemia, classified as the main types α- and β-thalassemia, is a single gene disorder resulting from globin chain synthesis impairment through the mutation or deletion of globin genes. The incidence of thalassemia is high worldwide, with high associated mortality. Therefore, treatment is important to improve patient outcomes. This paper reviews the current status of β-thalassemia major in China, including its epidemiology and treatment.

摘要

地中海贫血分为主要类型的α型和β型，是一种单基因疾病，由珠蛋白基因突变或缺失导致珠蛋白链合成受损引起。地中海贫血在全球发病率很高，相关死亡率也很高。因此，治疗对于改善患者预后很重要。本文综述了中国重型β地中海贫血的现状，包括其流行病学和治疗情况。