简单中的复杂性：探索镰状细胞病的多因素本质。
Complexity within simplicity: Exploring the multifactorial nature of sickle cell disease.
作者信息
Starlard-Davenport Athena
机构信息
University of Tennessee Health Science Center, College of Medicine, Department of Genetics, Genomics and Informatics, Memphis, TN 38163, USA.
出版信息
Am J Hum Genet. 2025 Jul 3;112(7):1499-1503. doi: 10.1016/j.ajhg.2025.05.008. Epub 2025 Jun 6.
Abstract
Sickle cell disease, though monogenic, exhibits complex clinical variability driven by genetic, epigenetic, and environmental factors. This commentary highlights advances in precision therapies and underscores the urgent need for equitable access, global collaboration, and personalized approaches to address the significant health disparities impacting individuals with sickle cell disease worldwide.
摘要
镰状细胞病虽是单基因疾病，但其临床变异性复杂，由遗传、表观遗传和环境因素驱动。本评论强调了精准治疗方面的进展，并强调迫切需要公平获取治疗、全球合作以及个性化方法，以解决影响全球镰状细胞病患者的重大健康差距问题。
相似文献
1
Complexity within simplicity: Exploring the multifactorial nature of sickle cell disease.简单中的复杂性：探索镰状细胞病的多因素本质。
Am J Hum Genet. 2025 Jul 3;112(7):1499-1503. doi: 10.1016/j.ajhg.2025.05.008. Epub 2025 Jun 6.
2
Experiences With a Multicomponent Digital Behavioral Pain Management Intervention for Adults With Sickle Cell Disease: Qualitative Analysis of the CaRISMA Trial.镰状细胞病成人多成分数字行为疼痛管理干预的经验：CaRISMA试验的定性分析
JMIR Hum Factors. 2025 Aug 5;12:e73719. doi: 10.2196/73719.
3
Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.
OMICS. 2025 Aug;29(8):353-373. doi: 10.1177/15578100251359276. Epub 2025 Jul 28.
4
Zinc supplements for treating thalassaemia and sickle cell disease.用于治疗地中海贫血和镰状细胞病的锌补充剂。
Cochrane Database Syst Rev. 2013 Jun 28;2013(6):CD009415. doi: 10.1002/14651858.CD009415.pub2.
5
Gene therapy for sickle cell disease.镰状细胞病的基因治疗。
Cochrane Database Syst Rev. 2016 Nov 14;11:CD007652. doi: 10.1002/14651858.CD007652.pub5.
6
Gene therapy for sickle cell disease.镰状细胞病的基因治疗。
Cochrane Database Syst Rev. 2012 Nov 14;11:CD007652. doi: 10.1002/14651858.CD007652.pub3.
7
Gene therapy for sickle cell disease.镰状细胞病的基因治疗。
Cochrane Database Syst Rev. 2014 Oct 10(10):CD007652. doi: 10.1002/14651858.CD007652.pub4.
8
Preoperative blood transfusions for sickle cell disease.镰状细胞病的术前输血
Cochrane Database Syst Rev. 2016 Apr 6;4(4):CD003149. doi: 10.1002/14651858.CD003149.pub3.
9
Interventions for treating leg ulcers in people with sickle cell disease.治疗镰状细胞病患者腿部溃疡的干预措施。
Cochrane Database Syst Rev. 2021 Jan 9;1(1):CD008394. doi: 10.1002/14651858.CD008394.pub4.
10
Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease.输血预防镰状细胞病患者的原发性和继发性中风
Cochrane Database Syst Rev. 2017 Jan 17;1(1):CD003146. doi: 10.1002/14651858.CD003146.pub3.
本文引用的文献
1
Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000-2021: a systematic analysis from the Global Burden of Disease Study 2021.全球、区域和国家镰状细胞病的患病率和死亡负担，2000-2021 年：2021 年全球疾病负担研究的系统分析。
Lancet Haematol. 2023 Aug;10(8):e585-e599. doi: 10.1016/S2352-3026(23)00118-7. Epub 2023 Jun 15.
2
Long-term survival with sickle cell disease: a nationwide cohort study of Medicare and Medicaid beneficiaries.镰状细胞病的长期生存：医疗保险和医疗补助受益人的全国队列研究。
Blood Adv. 2023 Jul 11;7(13):3276-3283. doi: 10.1182/bloodadvances.2022009202.
3
MicroRNA29B induces fetal hemoglobin inhibition of the HBG repressor protein MYB and in humanized sickle cell mice.微小RNA29B在人源化镰状细胞小鼠中诱导胎儿血红蛋白，抑制HBG阻遏蛋白MYB。
Front Med (Lausanne). 2022 Nov 25;9:1043686. doi: 10.3389/fmed.2022.1043686. eCollection 2022.
4
Genetic Modifiers of Sickle Cell Disease.镰状细胞病的遗传修饰物。
Hematol Oncol Clin North Am. 2022 Dec;36(6):1097-1124. doi: 10.1016/j.hoc.2022.06.006.
5
Targeting Genetic Modifiers of HBG Gene Expression in Sickle Cell Disease: The miRNA Option.靶向镰状细胞病 HBG 基因表达的遗传修饰物：miRNA 方案。
Mol Diagn Ther. 2022 Sep;26(5):497-509. doi: 10.1007/s40291-022-00589-z. Epub 2022 May 12.
6
Exploring epigenetic and microRNA approaches for γ-globin gene regulation.探索γ-珠蛋白基因调控的表观遗传和 microRNA 方法。
Exp Biol Med (Maywood). 2021 Nov;246(22):2347-2357. doi: 10.1177/15353702211028195. Epub 2021 Jul 22.
7
MIR29B mediates epigenetic mechanisms of HBG gene activation.MIR29B 介导 HBG 基因激活的表观遗传机制。
Br J Haematol. 2019 Jul;186(1):91-100. doi: 10.1111/bjh.15870. Epub 2019 Mar 19.
8
Environmental determinants of severity in sickle cell disease.镰状细胞病严重程度的环境决定因素。
Haematologica. 2015 Sep;100(9):1108-16. doi: 10.3324/haematol.2014.120030.
9
Prevalence and progression of chronic kidney disease in adult patients with sickle cell disease.镰状细胞病成年患者慢性肾脏病的患病率及进展情况
J Investig Med. 2014 Jun;62(5):804-7. doi: 10.1097/01.JIM.0000446836.75352.72.
10
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.全基因组关联研究鉴定出影响镰状细胞病患者 F 细胞水平的遗传变异。
J Hum Genet. 2011 Apr;56(4):316-23. doi: 10.1038/jhg.2011.12. Epub 2011 Feb 17.
Zotero 插件