Document Detail


Report of the fifth homozygous patient with factor VII Padua defect.
MedLine Citation:
PMID:  6194079     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A new patient with factor VII Padua abnormality is presented. The propositus is a 70 old man who showed a mild bleeding tendency characterized by occasional epistaxis and a laboratory pattern of prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII activity was 7% using rabbit brain thromboplastin and 105% of normal using ox-brain thromboplastin. Intermediate levels were found by using thromboplastin of human origin. Factor VII cross-reacting material was normal. Parents were not consanguineous but both came from the same area. Two children of the propositus were found, as expected, to be homozygous for the abnormality. No relationship could be traced between the propositus and the other homozygous patients already reported. However, the patient came from the same geographic area, namely the Piave river valley in northeastern Italy. The discovery of the present patient, the fifth in four years, indicates that the defect might be more frequent than originally assumed.
Authors:
A Girolami; R Dal Bo Zanon; A Caenazzo; N Scattolo
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Folia haematologica (Leipzig, Germany : 1928)     Volume:  110     ISSN:  0323-4347     ISO Abbreviation:  Folia Haematol. Int. Mag. Klin. Morphol. Blutforsch.     Publication Date:  1983  
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0374615     Medline TA:  Folia Haematol Int Mag Klin Morphol Blutforsch     Country:  GERMANY, EAST    
Other Details:
Languages:  eng     Pagination:  447-54     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aged
Animals
Blood Coagulation Disorders / genetics*
Blood Coagulation Tests
Brain Chemistry
Cattle
Factor VII / genetics*
Homozygote
Humans
Lung / analysis
Male
Pedigree
Rabbits
Thromboplastin / isolation & purification
Chemical
Reg. No./Substance:
9001-25-6/Factor VII; 9035-58-9/Thromboplastin

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


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