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Haemolysis in sickle cell anaemia: effects of polymorphisms in α-globin gene regulatory elements.

作者信息

Milton Jacqueline N, Shaikho Elmutaz M, Steinberg Martin H

机构信息

Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

Department of Medicine, Boston University School of Medicine, Boston, MA, USA.

出版信息

Br J Haematol. 2019 Jul;186(2):363-364. doi: 10.1111/bjh.15852. Epub 2019 Mar 10.

DOI:10.1111/bjh.15852
PMID:30854637
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6606385/
Abstract
摘要

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Sickle cell disease in the era of precision medicine: looking to the future.精准医学时代的镰状细胞病:展望未来。
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本文引用的文献

1
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.常见的α-珠蛋白变异可改变镰状细胞特征和疾病的血液学和其他临床表型。
PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.
2
Intravascular hemolysis and the pathophysiology of sickle cell disease.血管内溶血与镰状细胞病的病理生理学
J Clin Invest. 2017 Mar 1;127(3):750-760. doi: 10.1172/JCI89741.
3
Genetic dissection of the α-globin super-enhancer in vivo.α-珠蛋白超级增强子在体内的遗传剖析
Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4.
4
Genetic determinants of haemolysis in sickle cell anaemia.镰状细胞贫血症溶血的遗传决定因素。
Br J Haematol. 2013 Apr;161(2):270-8. doi: 10.1111/bjh.12245. Epub 2013 Feb 14.
5
The relationship between the severity of hemolysis, clinical manifestations and risk of death in 415 patients with sickle cell anemia in the US and Europe.美国和欧洲 415 例镰状细胞贫血患者的溶血严重程度、临床表现与死亡风险之间的关系。
Haematologica. 2013 Mar;98(3):464-72. doi: 10.3324/haematol.2012.068965. Epub 2012 Sep 14.
6
Genetic modifiers of sickle cell disease.镰状细胞病的遗传修饰物。
Am J Hematol. 2012 Aug;87(8):795-803. doi: 10.1002/ajh.23232. Epub 2012 May 28.
7
Alpha-thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene.黑人中的α地中海贫血:遗传与临床特征以及与镰状血红蛋白基因的相互作用
Blood. 1986 Nov;68(5):985-90.
8
Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of individuals with sickle cell trait.α地中海贫血和镰状细胞聚合倾向对镰状细胞性状个体尿浓缩缺陷的影响。
J Clin Invest. 1991 Dec;88(6):1963-8. doi: 10.1172/JCI115521.