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The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.

作者信息

Daidone Viviana, Galletta Eva, Bertomoro Antonella, Casonato Alessandra

机构信息

Thrombohaemorrhagic Disorders Unit, Department of Medicine, University of Padua Medical School, Padua, Italy.

出版信息

Blood Transfus. 2018 Jan;16(1):114-117. doi: 10.2450/2016.0132-16. Epub 2016 Nov 15.

DOI:10.2450/2016.0132-16
PMID:27893350
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5770322/
Abstract
摘要

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1
The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.出血评估工具及实验室数据在遗传性甲型血友病女性患者特征描述中的应用
Blood Transfus. 2018 Jan;16(1):114-117. doi: 10.2450/2016.0132-16. Epub 2016 Nov 15.
2
[Haemophilia].[血友病]
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Phenotype and genotype comparisons in carriers of haemophilia A.甲型血友病携带者的表型与基因型比较。
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4
Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.血友病A和B携带者中X染色体失活模式与血浆因子VIII和因子IX浓度之间无相关性。
Thromb Haemost. 2000 Mar;83(3):433-7.
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Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII.一种以因子VIII可变表达为特征的新型A型血友病的分子遗传学分析
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Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.两名无血缘关系女性因F8基因倒位合并X染色体失活偏倚而患甲型血友病。
Thromb Haemost. 2009 Apr;101(4):775-8.
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Detection of haemophilia A during quality assurance of fresh frozen plasma.新鲜冰冻血浆质量保证过程中甲型血友病的检测
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Detecting haemophilia carriers.检测血友病携带者。
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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.一名患有杂合性内含子22倒位和X染色体失活偏倚的甲型血友病女性的调查。
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Mechanistic Insights into Factor VIII Immune Tolerance Induction via Prenatal Cell Therapy in Hemophilia A.对血友病A中通过产前细胞疗法诱导凝血因子VIII免疫耐受的机制性见解。
Curr Stem Cell Rep. 2019 Dec;5(4):145-161. doi: 10.1007/s40778-019-00165-y. Epub 2019 Nov 20.

本文引用的文献

1
Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.一名日本女性因F8基因内含子22倒位并伴有X染色体失活偏倚而患严重甲型血友病。
Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.
2
ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders.国际血栓与止血学会/科学标准化委员会出血评估工具：一份标准化问卷及遗传性出血性疾病新出血评分提案
J Thromb Haemost. 2010 Sep;8(9):2063-5. doi: 10.1111/j.1538-7836.2010.03975.x.
3
Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.两名无血缘关系女性因F8基因倒位合并X染色体失活偏倚而患甲型血友病。
Thromb Haemost. 2009 Apr;101(4):775-8.
4
Molecular mechanisms underlying hemophilia A phenotype in seven females.七名女性血友病A表型的分子机制
J Thromb Haemost. 2009 Jun;7(6):976-82. doi: 10.1111/j.1538-7836.2009.03346.x. Epub 2009 Mar 19.
5
Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.开发新一代检测方法，用于对涉及凝血因子VIII基因中int22h和int1h热点的血友病致病重排进行基因分型。
J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12.
6
Identifying type Vicenza von Willebrand disease.识别维琴察型血管性血友病。
J Lab Clin Med. 2006 Feb;147(2):96-102. doi: 10.1016/j.lab.2005.10.002.
7
Silencing of the mammalian X chromosome.哺乳动物X染色体的沉默
Annu Rev Genomics Hum Genet. 2005;6:69-92. doi: 10.1146/annurev.genom.6.080604.162350.
8
Gene action in the X-chromosome of the mouse (Mus musculus L.).小鼠（小家鼠）X染色体上的基因作用。
Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.
9
Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.患有因因子VIII内含子22倒位突变导致的纯合子型女性血友病患者，其中一个因子VIII等位基因发生转录失活。
Haemophilia. 2003 Jan;9(1):125-30. doi: 10.1046/j.1365-2516.2003.00704.x.
10
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.维琴察型血管性血友病因子生存时间缩短。
Blood. 2002 Jan 1;99(1):180-4. doi: 10.1182/blood.v99.1.180.