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An urgent need for improving thalassemia care due to the wide gap in current real-life practice and clinical practice guidelines.由于当前实际实践与临床实践指南之间存在巨大差距，因此迫切需要改善地中海贫血症的护理。
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本文引用的文献

1
Therapeutic perspective for children and young adults living with thalassemia and sickle cell disease.治疗地中海贫血症和镰状细胞病患儿及青少年的新视角。
Eur J Pediatr. 2023 Jun;182(6):2509-2519. doi: 10.1007/s00431-023-04900-w. Epub 2023 Mar 31.
2
Hematopoietic Stem Cell Transplantation in Thalassemia.地中海贫血症中的造血干细胞移植。
Hematol Oncol Clin North Am. 2023 Apr;37(2):413-432. doi: 10.1016/j.hoc.2022.12.009.
3
Molecular Basis and Genetic Modifiers of Thalassemia.地中海贫血的分子基础和遗传修饰物。
Hematol Oncol Clin North Am. 2023 Apr;37(2):273-299. doi: 10.1016/j.hoc.2022.12.001.
4
Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.用于地中海贫血诊断的下一代测序（NGS）和第三代测序（TGS）
Diagnostics (Basel). 2023 Jan 19;13(3):373. doi: 10.3390/diagnostics13030373.
5
Thalassemia: A Review of the Challenges to the Families and Caregivers.地中海贫血：对家庭和照料者的挑战综述
Cureus. 2022 Dec 13;14(12):e32491. doi: 10.7759/cureus.32491. eCollection 2022 Dec.
6
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.全球血红蛋白网络共识文件：32个国家改善地中海贫血护理与预防的分类及分层路线图
J Pers Med. 2022 Mar 31;12(4):552. doi: 10.3390/jpm12040552.
7
The psychosocial challenges of mothers of children with thalassemia: A qualitative study.地中海贫血患儿母亲面临的心理社会挑战：一项定性研究。
J Educ Health Promot. 2022 Jan 31;11:37. doi: 10.4103/jehp.jehp_163_21. eCollection 2022.
8
Thalassemia Major and Associated Psychosocial Problems: A Narrative Review.重型地中海贫血及相关心理社会问题：叙述性综述
Iran J Public Health. 2022 Jan;51(1):12-18. doi: 10.18502/ijph.v51i1.8287.
9
Molecular genetics of β-thalassemia: A narrative review.β-地中海贫血的分子遗传学：叙述性综述。
Medicine (Baltimore). 2021 Nov 12;100(45):e27522. doi: 10.1097/MD.0000000000027522.
10
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.改编 ACMG/AMP 变异分类框架：ClinGen 血红蛋白病变异解读专家小组的观点。
Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24.

Editorial: Insights in thalassemia: from genomics to clinical practice.

作者信息

Silao Catherine Lynn T, Latiff Zarina Abdul, Kountouris Petros, Zilfalil Bin Alwi

机构信息

Institute of Human Genetics, National Institutes of Health, Manila, Philippines.

Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

出版信息

Front Pediatr. 2023 Jul 14;11:1222946. doi: 10.3389/fped.2023.1222946. eCollection 2023.

DOI:10.3389/fped.2023.1222946
PMID:37520048
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10381938/
Abstract
摘要