Inherited platelet disorders

被引：19

作者：

Hayward, CPM

机构：

[1] McMaster Univ, Hamilton, ON L8N 3Z5, Canada

[2] Hamilton Reg Lab Med Program, Hamilton, ON L8N 3Z5, Canada

来源：

CURRENT OPINION IN HEMATOLOGY | 2003年 / 10卷 / 05期

关键词：

congenital platelet disorders; inherited bleeding disorders; thrombocytopenia; platelet function; platelet aggregation;

D O I：

10.1097/00062752-200309000-00007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used in clinical practice to manage these conditions. (C) 2003 Lippincott Williams Wilkins.

引用

收藏

页码：362 / 368

页数：7

相关论文

共 59 条

[1]

ANDERSON PD, 2003, IN PRESS HUM GENET

[2] c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia [J].

Ballmaier, M ;

Germeshausen, M ;

Schulze, H ;

Cherkaoui, K ;

Lang, S ;

Gaudig, A ;

Krukemeier, S ;

Eilers, M ;

Strauss, G ;

Welte, K .

BLOOD, 2001, 97 (01) :139-146

[3] A NEW CONGENITAL DYSMEGAKARYOPOIETIC THROMBOCYTOPENIA (PARIS-TROUSSEAU) ASSOCIATED WITH GIANT PLATELET ALPHA-GRANULES AND CHROMOSOME-11 DELETION AT 11Q23 [J].

BRETONGORIUS, J ;

FAVIER, R ;

GUICHARD, J ;

CHERIF, D ;

BERGER, R ;

DEBILI, N ;

VAINCHENKER, W ;

DOUAY, L .

BLOOD, 1995, 85 (07) :1805-1814

[4] A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies [J].

Buijs, A ;

Poddighe, P ;

van Wijk, R ;

van Solinge, W ;

Borst, E ;

Verdonck, L ;

Hagenbeek, A ;

Pearson, P ;

Lokhorst, H .

BLOOD, 2001, 98 (09) :2856-2858

[5]

CATAMAN G, 1997, BRIT J HAEMATOL, V96, P458

[6] Patients with congenital abnormality of platelet aggregation induced by Ca2+ ionophores may have a defect of the platelet P2Y12 receptor for ADP [J].

Cattaneo, M ;

Lecchi, A .

BRITISH JOURNAL OF HAEMATOLOGY, 2001, 115 (02) :485-486

[7] Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores -: Further evidence that some cases of platelet 'primary secretion defect' are heterozygous for a defect of P2CYC receptors [J].

Cattaneo, M ;

Lecchi, A ;

Lombardi, R ;

Gachet, C ;

Zighetti, ML .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2000, 20 (11) :E101-E106

[8]

CATTANEO M, 2002, PLATELETS, P855

[9]

CATTANEO M, 2002, PLATELETS THROMBOTIC, P655

[10]

Clemetson KJ, 2002, PLATELETS THROMBOTIC, P639

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