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Hematology Volume 29, 2024 - Issue 1
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Case Report

Bernard–Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review

Senlin Zhanga Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Jing Linga Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Kai Cuia Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Shihong Zhanb Department of Neonatology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Jiajia Zhenga Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Wenyi Wanga Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaView further author information
,
Junjie Fana Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaCorrespondence[email protected]
View further author information
&
Shaoyan Hua Department of Hematology and Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaCorrespondence[email protected]
View further author information
 show all
Article: 2334642 | Received 29 Sep 2023, Accepted 20 Mar 2024, Published online: 02 Apr 2024

References

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  • Andrews RK, Berndt MC. Bernard–Soulier syndrome: an update. Semin Thromb Hemost. 2013;39(6):656–662. doi:10.1055/s-0033-1353390
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  • Savoia A, Kunishima S, De Rocco D, et al. Spectrum of the mutations in Bernard–Soulier syndrome. Hum Mutat. 2014;35(9):1033–1045. doi:10.1002/humu.22607
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
  • Bryckaert M, Rosa JP, Denis CV, et al. Of von Willebrand factor and platelets. Cell Mol Life Sci. 2015;72(2):307–326. doi:10.1007/s00018-014-1743-8
  • Lanza F. Bernard–Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006. doi:10.1186/1750-1172-1-46.
  • Grainger JD, Thachil J, Will AM. How we treat the platelet glycoprotein defects: Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. Br J Haematol. 2018;182(5):621–632. doi:10.1111/bjh.15409
  • Alamelu J, Liesner R. Modern management of severe platelet function disorders. Br J Haematol. 2010;149(6):813–823. doi:10.1111/j.1365-2141.2010.08191.x
  • Noda M, Fujimura K, Takafuta T, et al. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard–Soulier syndrome caused by different genetic abnormalities. Thromb Haemost. 1995;74(6):1411–1415. doi:10.1055/s-0038-1649956
  • LiC PD, Roth GJ. Bernard–Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. Thromb Haemost. 1996;76(5):670–674. doi:10.1055/s-0038-1650640
  • Noris P, Klersy C, Gresele P, et al. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br J Haematol. 2013;162(1):112–119. doi:10.1111/bjh.12349
  • Alamelu J, Liesner R. Modern management of severe platelet function disorders. Br J Haematol. 2010;149(6):813–823. doi:10.1111/j.1365-2141.2010.08191.x
  • Pham A, Wang J. Bernard–Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007;131(12):1834–1836. doi:10.5858/2007-131-1834-BSAIPD
  • Leinøe E, Brøns N, Rasmussen AØ, et al. The Copenhagen founder variant GP1BA c.58T > G is the most frequent cause of inherited thrombocytopenia in Denmark. J Thromb Haemost. 2021;19(11):2884–2892. doi:10.1111/jth.15479

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