Clinical and molecular insights into Glanzmann's thrombasthenia in China.
Clinical and molecular insights into Glanzmann's thrombasthenia in China.
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中国格兰兹曼血小板无力症的临床和分子研究
DOI：
10.1111/cge.13366
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发表时间：
2018-08
影响因子：
3.5
通讯作者：
Xia L
中科院分区：
文献类型：
--
作者：
Zhou L;Jiang M;Shen H;You T;Ding Z;Cui Q;Ma Z;Yang F;Xie Z;Shi H;Su J;Cao L;Lin J;Yin J;Dai L;Wang H;Wang Z;Yu Z;Ruan C;Xia L
血小板无力症是一种罕见的出血性疾病，其特征是自发性粘膜皮肤出血。这种疾病是由血小板上整合素αIIbβ3（由ITGA 2B和ITGB 3编码）的定量或定性缺陷引起的，在近亲人群中更常见。然而，GT在非血缘人群中的患病率和临床特征尚不清楚。我们分析了中国汉族人群中93个GT家系的97例患者。该分析显示，在GT易感国家，汉族患者的血缘关系（18.3%）低于其他种族人群。与其他民族人群相比，GT型分布差异无统计学意义。汉族女性出血严重，预后差。我们在45名患者中共鉴定了43种不同的ITGA2B和ITGB3变异体，包括25种以前未鉴定的变异体。这些变体包括14个错义、4个无义、4个移码和3个剪接位点变体。相同基因型的患者一般表现为相同的GT类型，但表现出不同的出血严重程度。这表明GT临床表型并不完全取决于基因型。我们的研究提供了中国GT异质性的初步但重要的临床和分子特征。中国汉族患者的血缘关系低于其他民族。女性患者出血严重，预后差。25个新的突变，包括4个复发的。
Glanzmann’s thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in nonconsanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18.3%) in Han patients than other ethnic populations in GT-prone countries. Compared with other ethnic populations, there was no significant difference in the distribution of GT types. Han females suffered more severe bleeding and had a poorer prognosis. We identified a total of 43 different ITGA2B and ITGB3 variants, including 25 previously unidentified, in 45 patients. These variants included 14 missense, four nonsense, four frameshift, and three splicing site variants. Patients with the same genotype generally manifested the same GT type but presented with different bleeding severities. This suggests that GT clinical phenotype does not solely depend on genotype. Our study provides an initial, yet important, clinical and molecular characterization of GT heterogeneity in China. Lower consanguinity in Chinese Han patients than other ethnic groups. Female patients had more severe bleeding and a poorer prognosis. Twenty-five novel mutations including four recurrent ones were identified.
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DOI：
10.3324/haematol.10847
发表时间：
2007-05-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
--
作者：
Losonczy, Gergely;Rosenberg, Nurit;Muszbek, Laszlo
通讯作者：
Muszbek, Laszlo
影响因子：
3.9
作者：
Peretz, H;Rosenberg, N;Seligsohn, U
通讯作者：
Seligsohn, U
影响因子：
10.4
作者：
Kannan, M.;Ahmad, F.;Saxena, R.
通讯作者：
Saxena, R.
影响因子：
4.1
作者：
CALVETE, JJ;HENSCHEN, A;GONZALEZRODRIGUEZ, J
通讯作者：
GONZALEZRODRIGUEZ, J
影响因子：
3.7
作者：
Nurden AT
通讯作者：
Nurden AT