Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes)

被引：15

作者：

Antonio, Girolami ^{[1
]}

Silvia, Vettore ^{[1
]}

Emanuela, Bonamigo ^{[1
]}

Fabrizio, Fabris ^{[1
]}

机构：

[1] Univ Padua, Dept Med & Surg Sci, Sch Med, I-35128 Padua, Italy

来源：

JOURNAL OF THROMBOSIS AND THROMBOLYSIS | 2011年 / 32卷 / 04期

关键词：

MYH9; gene; Macrothrombocytopenias; Thrombosis; IDIOPATHIC THROMBOCYTOPENIC PURPURA; ACUTE MYOCARDIAL-INFARCTION; VENOUS THROMBOSIS; LEUKOCYTE INCLUSIONS; MYH9-RELATED DISEASE; BLEEDING DISORDERS; HEMOPHILIA-A; PATIENT; ARTERIAL; VARIANT;

D O I：

10.1007/s11239-011-0623-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital macrothrombocytopenia are a group of disorders which may be due to mutations in the MYH9 gene. This gene linked to chromosome 22 encodes for the nonmuscle heavy chain IIA that is expressed in platelets and in other tissues. In the past these disorders were known as May-Hegglin anomaly, Sebastian, Fechtner and Epstein syndromes. The main common feature is the presence of thrombocytopenia with large platelets. The evaluation of all reported cases indicates that thrombotic events appear to occur only in patients with May Hegglin variants. Whether this is due to the higher prevalence of this variant as compared with the others or to a specific difference is still unknown. However, the occurrence of thrombotic events in only one of these conditions may be used as a new tentative differentiability feature.

引用

页码：474 / 477

页数：4

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