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- Title
The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.
- Authors
Rabelo, F.Y.; Jardim, L. L.; Landau, M. B.; Gadelha, T.; Corrêa, M. F. B.; Pereira, I.F.M.; Rezende, S. M.
- Abstract
Inherited factor VII (FVII) deficiency is the most common among the rare bleeding disorders. It is transmitted as an autosomal recessive inheritance, due to mutations in the FVII gene ( F7). Molecular studies of FVII deficiency are rare in non-Caucasian populations. The aim of the study was to evaluate the molecular basis behind low levels of FVII activity (FVII:C) levels in a cohort of Brazilian patients. A total of 34 patients with low FVII levels were clinically evaluated and submitted to laboratory tests, among these, prothrombin time and FVII:C, with different thromboplastins. All exons and intron/exon boundaries of F7 were amplified and sequenced. A total of 14 genetic alterations were identified, of which six were described previously, c.1091G>A, c.1151C>T, c.-323_-313insCCTATATCCT, c.285G>A, c.525C>T, c.1238G>A and eight (54.0%) and eight were new, c.128G>A, c.252C>T, c.348G>A, c.417G>A, c.426G>A, c.745_747delGTG, c.843G>A and c.805+52C>T. In addition to the mutation c.1091G>A, known as FVII Padua, the mutation c.1151C>T also presented discrepant FVII:C levels when tested with human and rabbit brain thromboplastin. There was no association between phenotype and genotype. Most of the identified genetic alterations found were polymorphisms. Low levels of FVII:C in this population were mostly related to polymorphisms in F7 and associated with a mild clinical phenotype. Mutation c.1151C>T was associated with discrepant levels of FVII:C using different thromboplastins, such as reported with FVII Padua.
- Subjects
BLOOD coagulation factor VII; HEMORRHAGE; PROTHROMBIN time; GENETIC mutation; GENETIC polymorphisms; HUMAN phenotype
- Publication
Haemophilia, 2015, Vol 21, Issue 5, p670
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.12645