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May—Hegglin异常误诊为特发性血小板减少性紫癜一例 被引量:2

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摘要 May-Hegglin异常(MHA)是一种罕见的常染色体显性遗传病。笔者曾发现1例被当地医院误诊为特发性血小板减少性紫癜的病例,现报告如下。
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2008年第6期702-703,共2页 Chinese Journal of Laboratory Medicine
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参考文献7

  • 1Noris P, Spedini P, Belletti S, et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies ( May-Hegglin anomaly): clinical and laboratory findings. Am J Med, 1998, 104:355-360.
  • 2Greinacher A, Mueller-Eckhardt C. Hereditary types of thrombocytopenia with giant platelets aad inclusion bodies in the leukocytes. Blut, 1990,60:53-60.
  • 3Nel N, van Rensburg BW, du Plessis L, et al. Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure. Am J Hematol ,1992,40:216-221.
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二级参考文献2

  • 1A. Greinacher,H. K. Nieuwenhuis,J. G. White. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions[J] 1990,Blut(5):282~288
  • 2A. Greinacher,C. Mueller-Eckhardt. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes[J] 1990,Blut(2):53~60

共引文献22

同被引文献39

  • 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
  • 2杨海燕,王兆钺.MYH9综合征的免疫荧光检测与基因分析[J].苏州大学学报(医学版),2006,26(6):973-976. 被引量:9
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  • 6Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain ⅡA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-Like syndromes [J]. Am J Hum Genet, 2001, 69 (5): 1033-1045.
  • 7May R. I.eukozyteneinschlusse [J]. Dtsch Arch Klin Med, 1909, 96 (1): 1-6.
  • 8Martignetti JA, Heath KE, Harris J, et al. The gene for May-Hegglin anomaly localizes to a < 1-Mb region on chromosome 22q126.3 13.1 [J]. Am J Hum Genet, 2000,66 (4): 1449-1454.
  • 9Kunishima S, Kojima T, Tanaka T, et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q [J]. Hum Genet, 1999, 105 (5): 379-383.
  • 10Satio H, Kunishima S. Historical hematology: May Hegglin anomaly [J]. Am J Hematol, 2008, 83 (4): 304-306.

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二级引证文献10

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