Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Haemophilia
; 22(4): 570-82, 2016 Jul.
Article
em En
| MEDLINE
| ID: mdl-27291889
ABSTRACT
INTRODUCTION:
Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterized by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleeding tendency. In spite of several causative genes having been identified, the underlying genetic defects remain to be identified in approximately half of the cases.AIMS:
To understand the molecular pathology of isolated giant platelet disorder from India. MATERIALS ANDMETHODS:
We studied 112 cases that were referred for investigation of macrothrombocytopenia. Agonist induced platelet aggregation and platelet GP1b/IX/V receptor expression were investigated to assess GP1b/IX/V receptor expression and the GP1BA, GP1BB, GP9, ABCG5, ABCG8, TUBB1 and MYH9 genes were analysed to identify candidate gene defects.RESULTS:
Twenty-three candidate gene defects were identified in 48 of 112 cases, 20 of which were novel. Of the candidate defects identified, 91% were missense and 9% were nonsense variations. The missense variations were in GP9 (9), ABCG5 (4), GP1BB (3), GP1BA (3) and MYH9 (2), while the nonsense defects occurred in MYH9 (1) and GP1BA (1).CONCLUSIONS:
This study increases the understanding of the molecular basis of an isolated giant platelet disorder, a common heterogeneous condition prevalent in north and eastern India.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trombocitopenia
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Complexo Glicoproteico GPIb-IX de Plaquetas
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Doenças Genéticas Ligadas ao Cromossomo X
Tipo de estudo:
Etiology_studies
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Prognostic_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Female
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Humans
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Male
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Middle aged
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article