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Hematology Volume 26, 2021 - Issue 1
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Case Report

An aberrant F8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient

Xiong Wanga Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of ChinaView further author information
,
Hongmei Wangb Department of Clinical Laboratory, Affiliated Dongfeng Hospital, Hubei University of Medicine, Shiyan, People’s Republic of ChinaView further author information
,
Haowen Tanc Aegicare Biotech, Shenzhen, People’s Republic of ChinaView further author information
,
Xiu-Ping Liud Department of Clinical Laboratory, Hangzhou Hospital of Traditional Chinese Medicine, Hangzhou, People’s Republic of ChinaCorrespondence[email protected] [email protected]
View further author information
&
Huijun Lia Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of ChinaCorrespondence[email protected] [email protected]
ORCID Iconhttps://orcid.org/0000-0003-2966-1569View further author information
ORCID Icon
Pages 53-57 | Published online: 31 Dec 2020

References

  • Berntorp E, Shapiro AD. Modern haemophilia care. Lancet. 2012;379:1447–1456.
  • White GC, Rosendaal F, Aledort LM, et al. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 2001;85:560.
  • Lu YL, Wang XF, Ding QL, et al. Prevalence of the factor 8 gene intron 1 inversion in Chinese haemophiliacs and its application to carrier detection and prenatal diagnosis in haemophilia A families. Haemophilia Official J World Federation Hemophil. 2011;17:541–542.
  • Bagnall RD, Waseem N, Green PM, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood. 2002;99:168–174.
  • Sanna V, Ceglia C, Tarsitano M, et al. Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy. J Thromb Haemos. 2013;11:195–197.
  • You G, Chi K, Lu Y, et al. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene. Thromb Haemost. 2014;112:264–270.
  • He X, Xiong Z, Shen N, et al. Performance of next-generation sequencing in the detection of large exon deletion in patients of haemophilia A. Haemophilia Official J World Federation Hemophilia. 2018;24:e296–e300.
  • Quenez O, Cassinari K, Coutant S, et al. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. Eur J Hum Genetics. 2020. DOI:https://doi.org/10.1038/s41431-020-0672-2.
  • Xu J, Wu J, Teng X, et al. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. Am J Med Genet A. 2020;182(9):2117–2123.
  • Bobyn A, Zarrei M, Zhu Y, et al. Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. BMC Med Genet. 2020;21:92.

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