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关键词:
- 遗传性球形红细胞增多症 /
- 红细胞膜病 /
- 分子诊断
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Key words:
- hereditary spherocytosis /
- RBC membrane disorder /
- molecular diagnosis
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[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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