Hereditary protein C deficiency in Indian patients with venous thrombosis.

Abstract:

:Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were detected only in 8 (7.8 %) patients with reduced PC levels. PROC promoter region CG polymorphisms showed statistically significant association with reduced PC levels (p < 0.001). PC deficiency in Indian VT patients can, thus, largely be explained by PROC gene promoter CG polymorphisms; only a small fraction of the patients show specific mutations in PROC gene.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Pai N,Ghosh K,Shetty S

doi

10.1007/s00277-012-1483-5

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

1471-6

issue

9

eissn

0939-5555

issn

1432-0584

journal_volume

91

pub_type

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