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伊朗甲型血友病患者的突变检测与抑制剂风险：六个新突变

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.

作者信息

Nasirnejad Sola Farzaneh, Morovvati Saeid, Sabetghadam Moghadam Mitra, Entezari Malihe

机构信息

Department of Genetics Faculty of Advanced Sciences and Technology Islamic Azad University of Medical Sciences Tehran Iran.

Human Genetic Research Center Baqiyatallah University of Medical Sciences Tehran Iran.

出版信息

Clin Case Rep. 2020 Sep 15;8(12):2976-2985. doi: 10.1002/ccr3.3294. eCollection 2020 Dec.

DOI:10.1002/ccr3.3294
PMID:33363863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7752620/
Abstract

This investigation facilitates a better understanding of inhibitor development, the critical treatment morbidity in HA patients. Furthermore, six novel mutations are reported, which would expand the mutation spectrum of the gene.

摘要

这项研究有助于更好地理解抑制剂的开发，这是血友病A患者治疗中的关键发病率问题。此外，还报告了六个新的突变，这将扩大该基因的突变谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7955/7752620/ab55fa1a80ea/CCR3-8-2976-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7955/7752620/ab55fa1a80ea/CCR3-8-2976-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7955/7752620/ab55fa1a80ea/CCR3-8-2976-g001.jpg

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Turk J Haematol. 2020 Aug 28;37(3):145-153. doi: 10.4274/tjh.galenos.2020.2019.0262. Epub 2020 Feb 6.
2
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.针对参与“我的生活，我们的未来”倡议的3000名血友病患者的基因分析新方法及结果。
Blood Adv. 2017 May 18;1(13):824-834. doi: 10.1182/bloodadvances.2016002923. eCollection 2017 May 23.
3
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.
五种F8复合重排的分子细胞遗传学特征：对甲型血友病遗传咨询的效用
Haemophilia. 2017 Jul;23(4):e316-e323. doi: 10.1111/hae.13218. Epub 2017 May 5.
4
Hemophilia in Iran.伊朗的血友病
Hematology. 2016 Jun;21(5):300-10. doi: 10.1080/10245332.2015.1125080. Epub 2016 Feb 24.
5
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.重度甲型血友病非亲缘家庭中的F8内含子22倒位及单核苷酸多态性rs73563631：临床特征及基因检测意义
Thromb Haemost. 2016 Mar;115(3):678-81. doi: 10.1160/TH15-08-0643. Epub 2015 Oct 22.
6
Factor IX deficiency (Christmas disease).因子IX缺乏症（克里斯马斯病）。
Med J Armed Forces India. 2012 Oct;68(4):379-80. doi: 10.1016/j.mjafi.2011.12.007. Epub 2012 Aug 15.
7
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Haemophilia in the developing countries: the Iranian experience.发展中国家的血友病：伊朗的经验。
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