Document Detail


Introns 1 and 22 inversions and factor VIII inhibitors in patients with severe haemophilia A in southern Brazil.
MedLine Citation:
PMID:  18759747     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A total of 107 unrelated severe haemophilia A patients living in the southern Brazilian state of Rio Grande do Sul were studied in relation to the prevalence of inversions present in introns 22 and 1 and a subsample of them (95) tested for the presence of Factor VIII inhibitors. These data were then incorporated with those from 15 other countries and 3871 patients. The frequencies of these two inversions show a remarkable homogeneity in series collected in different continents, from people with diverse ethnic extraction. The prevalence of inhibitors among patients with inversion 22, on the other hand, varies widely (5-51%; seven countries, 1482 patients), the value observed by us being the highest. The importance of obtaining data from patients throughout the world to clarify the aetiology of this important complicating factor in the therapeutics of the disease is emphasized.
Authors:
L B Leiria; I Roisenberg; F M Salzano; E Bandinelli
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-08-27
Journal Detail:
Title:  Haemophilia : the official journal of the World Federation of Hemophilia     Volume:  15     ISSN:  1365-2516     ISO Abbreviation:  Haemophilia     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-01-19     Completed Date:  2009-08-04     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9442916     Medline TA:  Haemophilia     Country:  England    
Other Details:
Languages:  eng     Pagination:  309-13     Citation Subset:  IM    
Affiliation:
Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Chromosome Inversion*
Factor VIII / immunology*
Hemophilia A / genetics*,  immunology
Humans
Introns / genetics
Isoantibodies / blood*
Male
Middle Aged
Polymerase Chain Reaction / methods
Risk Factors
Young Adult
Chemical
Reg. No./Substance:
0/Isoantibodies; 9001-27-8/Factor VIII

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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