努力提高“遗传性球形红细胞增多症”的诊断水平

薛军. 努力提高“遗传性球形红细胞增多症”的诊断水平[J]. 临床血液学杂志, 2020, 33(11): 742-745. doi: 10.13201/j.issn.1004-2806.2020.11.002
引用本文: 薛军. 努力提高“遗传性球形红细胞增多症”的诊断水平[J]. 临床血液学杂志, 2020, 33(11): 742-745. doi: 10.13201/j.issn.1004-2806.2020.11.002
XUE Jun. Improving the diagnostic level of hereditary spherocytosis[J]. J Clin Hematol, 2020, 33(11): 742-745. doi: 10.13201/j.issn.1004-2806.2020.11.002
Citation: XUE Jun. Improving the diagnostic level of hereditary spherocytosis[J]. J Clin Hematol, 2020, 33(11): 742-745. doi: 10.13201/j.issn.1004-2806.2020.11.002

努力提高“遗传性球形红细胞增多症”的诊断水平

  • 基金项目:

    南京市卫生健康委员会医学重点科技发展项目课题(No:ZKX17025)

详细信息
    通讯作者: 薛军,E-mail:xuejun64@sina.com
  • 中图分类号: R555.1

Improving the diagnostic level of hereditary spherocytosis

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  • [1]

    Perrotta S,Gallagher PG,Mohandas N.Hereditary spherocytosis[J].Lancet,2008,372:1411-1426.

    [2]

    李津婴,黄正霞,许燕群,等.溶血性疾病中的双重杂合因素及溶血系统分析的临床意义(附506例贫血黄疸病因分析)[J].临床血液学杂志,2005,18(4):204-206.

    [3]

    Wang Chao,Cui Yazhou,Li Yan,et al.A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model[J].Intractable Rare Dis Res,2015,4:76-81.

    [4]

    Eberle SE,Sciuccati G,Bonduel M,et al.Erythrocyte indexes in hereditary spherocytosis[J].Medicina (B Aires),2007,67:698-700.

    [5]

    Broseus J,Visomblain B,Guy J,et al.Evaluation of mean sphere corpuscular volume for predicting hereditary spherocytosis[J].Int J Lab Hematol,2010,32:519-523.

    [6]

    Warang P,Gupta M,Kedar P,et al.Flow cytometric osmotic fragility--an effective screening approach for red cell membranopathies[J].Cytometry B Clin Cytom,2011,80:186-190.

    [7]

    Kar R,Mishra P,Pati HP.Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosis[J].Int J Lab Hematol,2010,32:8-16.

    [8]

    Bianchi P,Fermo E,Vercellati C,et al.Diagnostic power of laboratory tests for hereditary spherocytosis:a comparison study in 150 patients grouped according to molecular and clinical characteristics[J].Haematologica,2012,97:516-523.

    [9]

    Mariani M,Barcellini W,Vercellati C,et al.Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect[J].Haematologica,2008,93:1310-1317.

    [10]

    Roy NB,Wilson EA,Henderson S,et al.A novel 33-Gene targeted resequencing panel provides accurate,clinical-grade diagnosis and improves patient management for rare inherited anaemias[J].Br J Haematol,2016,175:318-330.

    [11]

    Bolton-Maggs PH,Stevens RF,Dodd NJ,et al.Guidelines for the diagnosis and management of hereditary spherocytosis[J].Br J Haematol,2004,126:455-474.

    [12]

    Bolton-Maggs PH,Langer JC,Iolascon A,et al.Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update[J].Br J Haematol,2012,156:37-49.

    [13]

    Kim Y,Park J,Kim M.Diagnostic approaches for inherited hemolytic anemia in the genetic era[J].Blood Res,2017,52:84-94.

    [14]

    Xue J,He Q,Xie XJ,et al.A clinical and experimental study of adult hereditary spherocytosis in the Chinese population[J].Kaohsiung J Med Sci,2020,36:552-560.

    [15]

    何清,薛军.成人球形红细胞增多症临床分析[J].中华医学杂志,2014,94(8):603-605.

    [16]

    Xue J,He Q,Xie X,et al.Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis[J].Ann Transl Med,2019,7:527.

    [17]

    彭广新,杨文睿,赵馨,等.37例遗传性球形细胞增多症基因突变特征分析[J].中华血液学杂志,2018,39(11):898-903.

    [18]

    Wang R,Yang S,Xu M,et al.Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis[J].Sci China Life Sci,2018,61:947-953.

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收稿日期:  2020-08-12

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