Document Detail


Clinical and genetic aspects of Glanzmann's thrombasthenia in Israel: report of 22 cases.
MedLine Citation:
PMID:  1239828     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Twenty two patients (12 males and 10 females) from all over Israel fulfilled the criteria for establishing the diagnosis of Glanzmann's thrombasthenia. All have been observed to have a servere bleeding tendency since infancy or early childhood. In 8 out of 10 adult patients (7 females and 3 males) the bleeding manifestations have persisted over the years. In 2 adult patients major surgery was performed under platelet transfusions which appeared to prevent excessive bleeding. Pedigree analysis was possible for 21 patients who belong to 13 unrelated kindreds. Twelve kindreds are Jewish and one is Arab. Eleven of the 12 Jewish kindreds belong to the Iraqi Jewish community. Analysis of 16 sibships disclosed a corrected segregation ratio of 0.2, which is compatible with an autosomal recessive mode of inheritance. No bleeding manifestation whatsoever were observed in 30 obligatory carriers of thrombasthania, and the haemostatic functions tested in 12 of them were entirely normal.
Authors:
N Reichert; U Seligsohn; B Ramot
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Thrombosis et diathesis haemorrhagica     Volume:  34     ISSN:  0340-5338     ISO Abbreviation:  Thromb Diath Haemorrh     Publication Date:  1975 Dec 
Date Detail:
Created Date:  1976-03-24     Completed Date:  1976-03-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7608420     Medline TA:  Thromb Diath Haemorrh     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  806-20     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Blood Cell Count
Blood Coagulation
Blood Platelets
Blood Transfusion
Child
Child, Preschool
Female
Genes, Recessive
Hemorrhage
Humans
Infant
Infant, Newborn
Iraq / ethnology
Israel
Male
Pedigree
Platelet Aggregation
Pregnancy
Pregnancy Complications, Hematologic
Purpura, Thrombocytopenic / blood,  genetics*

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


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