获得性α-地中海贫血伴发骨髓增生异常综合征2例报道及文献复习

Acquired α-thalassemia associated with myelodysplastic syndrome:case report and literature review

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摘要目的:探讨获得性α-地中海贫血伴发骨髓增生异常综合征(MDS)的临床特点、诊断标准及发病机制。方法:国内首次报道两例获得性α-地中海贫血伴发MDS,并对有关文献进行复习。结果:获得性α-地中海贫血伴发MDS多具有特征性的小细胞低色素性贫血;蛋白电泳有异常的HbH带;除外先天性血红蛋白H病;伴发MDS。结论:获得性α-地中海贫血伴发MDS是一种罕见的疾病,其发病机制有待深入研究。 Objective：To investigate diagnostic criteria, clinical feature and pathogenesis of acquired α-thalassemia associated with myelodysplastic syndrome（ATMDS）. Method： We analyze and report clinical data of two cases with ATMDS for the first time and review the literatures. Result：ATMDS is characteristic by microcytic hypochromic anemia and abnormal Hb H inclusions, except inborn α-thalassemia, in MDS patients. Conelusion：ATMDS is an infrequent disease which is needed further more research on pathogenesis.

作者王春静刘新月唐泽海葛超陈智超邹萍

机构地区华中科技大学同济医学院附属协和医院血液病研究所

出处《临床血液学杂志》 CAS 2006年第6期337-339,共3页 Journal of Clinical Hematology

关键词获得性α-地中海贫血骨髓增生异常综合征 ATRX Acquired α-thalassemia； Myelodysplastic syndrome； ATRX

分类号 R556.6 [医药卫生—血液循环系统疾病]

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1STEENSMA D P, VIPRAKASIT V, HENDRICK A, et al. Deletion of the α-globin gene cluster as a cause of acquired α-thalassemia in myelodysplastic syndrome[J]. Blood, 2004, 1103:1518-1520.
2STEENSMA D P, GIBBONS R J, AND HIGGS D R. Acquired α-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies[J]. Blood, 2005, 105:443-542.
3STEENSMA D P, HIGGS DR, FISHER C A, et al.Acquired somatic ATRX mutations in myelodysplastic syndrome associated with α-thalassemia (AT-MDS) convey a more severe hematologic phenotype than germline ATRX mutations [J]. Blood, 2004,103:2019-2026.
4CARDOSO C, TIMSIT S, VILLARD L, et al. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein[J]. Human Molecular Genetics, 1998, 7:679-684.
5VILLARD L, BONINO M C, ABIDI F, et al. Evaluation of a mutation screening strategy sporadic cases of ATR-X syndrome[J]. J Med Genet, 1999, 36:183 -186.
6G. BERUBE N, SMEENK CA AND. PIDKETTS DJ.Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association. Hum Mol Genet, 2000,9 : 539-547.
7GIBBONS RJ, PELLAGATTI A, GARRICK D, et al.Identification of acquired somatic mutations in the gene encoding chromatin- remodeling factor ATRXin the alpha-thalassemia myelodysplasia syndrome(ATMDS). NatGenet. 2003 ,34:446-455.
8CARDOSO C,LUTZ Y,MIGNON C,et al. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR- X protein. J.Med. Genet. 2000,7:746-751.

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临床血液学杂志

2006年第6期

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获得性α-地中海贫血伴发骨髓增生异常综合征2例报道及文献复习

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