期刊文献+

血小板减少、粒细胞包涵体、巨大血小板 被引量:3

原文传递
导出
摘要 病历摘要 患者男,20岁。患者2岁时开始间断鼻出血,出血量时多时少,可自行止血,2003年到河北医科大学第二医院口腔科就诊。血常规检查:Hb144g/L,WBC4.2×10^9/L,PLT22×10^9/L。白细胞分类:中性粒细胞0.74,淋巴细胞0.18,嗜酸粒细胞0.07,嗜碱粒细胞0.01。由于血小板明显减少,遂行骨髓细胞形态学检查。骨髓取材、涂片、染色良好;骨髓有核细胞增生活跃,粒系占0.57,部分中性粒细胞及嗜酸粒细胞胞质中可见云雾状蓝斑,红系占0.13,各期幼红细胞形态正常,成熟红细胞形态无异常改变;巨核细胞13只,幼稚型1只,颗粒型8只,产板型4只,血小板散在分布,可见巨大血小板。
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2008年第5期589-591,共3页 Chinese Journal of Laboratory Medicine
基金 河北省计生委科学研究计划资助项目(200404)
  • 相关文献

参考文献7

二级参考文献20

共引文献93

同被引文献26

  • 1邵秀茹,李家增,马军,展昭民,梁红,佘袭楠,鲁海玲,王来慈,贾垂明,吴丽洁,靳明华,陈立君.一例May-Hegglin异常家系临床及分子生物学研究[J].中华血液学杂志,2004,25(9):548-551. 被引量:17
  • 2Heath KE,Campos-Barros A,Toren A,et al.Non musle myosin heavy chain ⅡA mutations define a spectrum of autosomal dominant macrothrombocytopenias:May-Hegglin anomaly and Fechtner,Sebastian,Epstein,and Alport-like syndromes.Am J Hnm Genet.2001.69:1033-1045.
  • 3Kelley MJ,Jawien W,Ortel T,et al.Mutations of MYH9,encoding nonmuscle myosin heavy chain A,in May-Hegglin anomaly.Nat Genet,2000,26:106-108.
  • 4Seri M,Cusano R,Gangrossa S,et al.Mutations in MYH9 result in the May-Hegglin anomaly and Fechtner and Sebastian syndrome.The May-Hegglin/Fechtner Syndrome Consortium.Nat Genet,2000,26:103-105.
  • 5Kunishma S,Kojima T,Matsushita T,et al.Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions(May-Hegglin anomaly/Sebastian Syndrome).Blood,2001,97:1147-1149.
  • 6Kunishma S,Matsushita T,Kojima T,et al.Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macmthrombocytopenia with leukocyte inclusions.J Hum Genet,2001,46:722-729.
  • 7Ma ES,Wong CL,Shek TW,et al.Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.Haematologica,2005,91:1002-1103.
  • 8Kunishima S,Mat sushita T,Hamaguchi M,et al.Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.Eur J Haematol,2008,80:540-544.
  • 9Deutsch S,Rideau A,Bochaton-Piallat ML,et al.Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypos in May-Hegghn anomaly/Fechtner syndrome.Blood,2003,102:529-534.
  • 10Pecci A,Panza E,Moix NP,et al.Position of nonmuscle myosin heavy chain Ⅱ A(NMMHC-ⅡA)mutations predicts the natural history of MYH9-related disease.Hum Mutat,2008,29:409-417.

引证文献3

二级引证文献10

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部