地中海贫血的分子基础和遗传修饰物。
Molecular Basis and Genetic Modifiers of Thalassemia.
机构信息
Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Regione Gonzole, 10, 10043 Orbassano, Turin, Italy. Electronic address: https://twitter.com/nicolotesio.
Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Pediatrics, Harvard Stem Cell Institute, Broad Institute, Harvard Medical School, Boston, MA, USA.
出版信息
Hematol Oncol Clin North Am. 2023 Apr;37(2):273-299. doi: 10.1016/j.hoc.2022.12.001.
Abstract
Thalassemia syndromes are common monogenic disorders and represent a significant health issue worldwide. In this review, the authors elaborate on fundamental genetic knowledge about thalassemias, including the structure and location of globin genes, the production of hemoglobin during development, the molecular lesions causing α-, β-, and other thalassemia syndromes, the genotype-phenotype correlation, and the genetic modifiers of these conditions. In addition, they briefly discuss the molecular techniques applied for diagnosis and innovative cell and gene therapy strategies to cure these conditions.
摘要
地中海贫血症是常见的单基因疾病，也是全球范围内的一个重大健康问题。在这篇综述中，作者详细阐述了有关地中海贫血症的基本遗传知识，包括珠蛋白基因的结构和位置、发育过程中血红蛋白的生成、导致α-、β-和其他地中海贫血症的分子病变、基因型-表型相关性，以及这些病症的遗传修饰因子。此外，他们还简要讨论了用于诊断的分子技术和创新的细胞与基因治疗策略，以治疗这些病症。
相似文献
1
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.
2
Update in the genetics of thalassemia: What clinicians need to know.地中海贫血遗传学的最新进展：临床医生需要了解的内容。
Best Pract Res Clin Obstet Gynaecol. 2017 Feb;39:3-15. doi: 10.1016/j.bpobgyn.2016.10.012. Epub 2016 Oct 26.
3
Molecular Basis and Genetic Modifiers of Thalassemia.地中海贫血的分子基础与遗传修饰因子
Hematol Oncol Clin North Am. 2018 Apr;32(2):177-191. doi: 10.1016/j.hoc.2017.11.003.
4
Clinical Classification, Screening and Diagnosis for Thalassemia.地中海贫血的临床分类、筛查与诊断
Hematol Oncol Clin North Am. 2018 Apr;32(2):193-211. doi: 10.1016/j.hoc.2017.11.006.
5
[Analysis of hematological phenotype and genotype of 23 patients from Guangdong with co-inherited hemoglobin Hb Westmead and β-thalassemia].广东23例共遗传血红蛋白西梅德和β地中海贫血患者的血液学表型和基因型分析
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):598-601. doi: 10.3760/cma.j.issn.1003-9406.2016.05.003.
6
Molecular biology of hemoglobin: its application to sickle cell anemia and thalassemia.血红蛋白的分子生物学：其在镰状细胞贫血和地中海贫血中的应用。
Schweiz Med Wochenschr Suppl. 1991;43:51-4.
7
A novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiology.中间型β地中海贫血的一种新分子基础对其病理生理学提出了新问题。
Blood. 2005 Nov 1;106(9):3251-5. doi: 10.1182/blood-2005-02-0593. Epub 2005 Jun 9.
8
Thalassemia, a human blood disorder.地中海贫血症，一种人类血液疾病。
Braz J Biol. 2021 Sep 3;83:e246062. doi: 10.1590/1519-6984.246062. eCollection 2021.
9
Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease.β地中海贫血和镰状细胞病的遗传基础及遗传修饰因子
Adv Exp Med Biol. 2017;1013:27-57. doi: 10.1007/978-1-4939-7299-9_2.
10
Introduction to the Thalassemia Syndromes: Molecular Medicine's Index Case.地中海贫血症综合征概论：分子医学的索引案例。
Hematol Oncol Clin North Am. 2023 Apr;37(2):245-259. doi: 10.1016/j.hoc.2022.11.001.
引用本文的文献
1
Exploring the role of consanguinity in thalassemia prevalence in Pakistan: an in-depth analysis of genetic and cultural factors affecting public health.探索近亲结婚在巴基斯坦地中海贫血患病率中的作用：对影响公众健康的遗传和文化因素的深入分析。
Ann Med Surg (Lond). 2025 May 26;87(7):4222-4228. doi: 10.1097/MS9.0000000000003404. eCollection 2025 Jul.
2
Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.超越输血和移植：基因组创新改写地中海贫血的故事
Ann Hematol. 2025 Aug 16. doi: 10.1007/s00277-025-06548-y.
3
Study on the diagnostic and differential value of thalassemia through combined blood routine examination and reticulocyte detection.血常规联合网织红细胞检测对地中海贫血的诊断及鉴别价值研究
Front Pediatr. 2025 Jul 29;13:1616766. doi: 10.3389/fped.2025.1616766. eCollection 2025.
4
Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions.Snrnp25是Hba缺失植入前致死表型的一个候选基因。
Mamm Genome. 2025 May 21. doi: 10.1007/s00335-025-10133-z.
5
Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.坦桑尼亚西北部的α+地中海贫血：新生儿筛查的分子和血液学见解
J Blood Med. 2025 May 15;16:241-250. doi: 10.2147/JBM.S514273. eCollection 2025.
6
Beta thalassemia syndromes: New insights.β地中海贫血综合征：新见解。
World J Clin Cases. 2025 Apr 6;13(10):100223. doi: 10.12998/wjcc.v13.i10.100223.
7
Prevalence and molecular spectrum of thalassemia in infertile population among different ethnic groups in Hainan Province, China.中国海南省不同民族不孕人群中地中海贫血的患病率及分子谱
Mol Genet Genomics. 2025 Mar 7;300(1):29. doi: 10.1007/s00438-025-02234-w.
8
Genetic Modifiers of Hemoglobin Expression from a Clinical Perspective in Hemoglobinopathy Patients with Beta Thalassemia and Sickle Cell Disease.从临床角度看β地中海贫血和镰状细胞病患者血红蛋白表达的遗传修饰物。
Int J Mol Sci. 2024 Nov 5;25(22):11886. doi: 10.3390/ijms252211886.
9
Associations between and polymorphisms and thalassemia risk.[具体基因]多态性与地中海贫血风险之间的关联。
需注意，原文中“and”前后内容缺失，这里补充了“[具体基因]”以便使译文完整表意，实际翻译时需根据准确的原文内容进行。
J Taibah Univ Med Sci. 2024 Oct 23;19(5):1039-1048. doi: 10.1016/j.jtumed.2024.10.004. eCollection 2024 Oct.
10
A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.产前诊断后发现的一例新型巴氏水肿胎儿病例：来自中国惠州的病例报告
Pract Lab Med. 2024 Oct 23;42:e00438. doi: 10.1016/j.plabm.2024.e00438. eCollection 2024 Nov.
本文引用的文献
1
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).一级和二级血红蛋白病诊断：意大利地中海贫血和血红蛋白病协会（SITE）的最佳实践
J Clin Med. 2022 Sep 15;11(18):5426. doi: 10.3390/jcm11185426.
2
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.HIC2 通过抑制 BCL11A 转录来控制发育性血红蛋白转换。
Nat Genet. 2022 Sep;54(9):1417-1426. doi: 10.1038/s41588-022-01152-6. Epub 2022 Aug 8.
3
CRISPR-Cas9-mediated gene editing of the BCL11A enhancer for pediatric β/β transfusion-dependent β-thalassemia.CRISPR-Cas9 介导的 BCL11A 增强子基因编辑治疗儿童输血依赖型β-地中海贫血。
Nat Med. 2022 Aug;28(8):1573-1580. doi: 10.1038/s41591-022-01906-z. Epub 2022 Aug 4.
4
Gene Therapy for Hemoglobinopathies: Beta-Thalassemia, Sickle Cell Disease.血红蛋白病的基因治疗：β-地中海贫血、镰状细胞病。
Hematol Oncol Clin North Am. 2022 Aug;36(4):769-795. doi: 10.1016/j.hoc.2022.03.008. Epub 2022 Jun 27.
5
The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.染色质重塑因子 ATRX 以随机的方式在异染色质和常染色质中促进多种核过程。
Nat Commun. 2022 Jun 17;13(1):3485. doi: 10.1038/s41467-022-31194-7.
6
Thalassaemia.地中海贫血症。
Lancet. 2022 Jun 18;399(10343):2310-2324. doi: 10.1016/S0140-6736(22)00536-0. Epub 2022 Jun 9.
7
Correction of Beta-Thalassemia IVS-II-654 Mutation in a Mouse Model Using Prime Editing.使用 Prime Editing 技术纠正小鼠模型中的β-地中海贫血 IVS-II-654 突变。
Int J Mol Sci. 2022 May 25;23(11):5948. doi: 10.3390/ijms23115948.
8
High-level correction of the sickle mutation is amplified during erythroid differentiation.镰状突变的高水平校正会在红细胞分化过程中被放大。
iScience. 2022 May 10;25(6):104374. doi: 10.1016/j.isci.2022.104374. eCollection 2022 Jun 17.
9
Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells.双重功能 NFI 因子控制成人红细胞中胎儿血红蛋白的沉默。
Nat Genet. 2022 Jun;54(6):874-884. doi: 10.1038/s41588-022-01076-1. Epub 2022 May 26.
10
Development of a double shmiR lentivirus effectively targeting both BCL11A and ZNF410 for enhanced induction of fetal hemoglobin to treat β-hemoglobinopathies.开发一种双 shmiR 慢病毒，可有效靶向 BCL11A 和 ZNF410，以增强诱导胎儿血红蛋白治疗β-血红蛋白病的效果。
Mol Ther. 2022 Aug 3;30(8):2693-2708. doi: 10.1016/j.ymthe.2022.05.002. Epub 2022 May 6.
Zotero 插件