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Thromb Haemost 1967; 18(03/04): 342-348
DOI: 10.1055/s-0038-1655041
Originalarbeiten — Original Articles — Travaux Originaux
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The Enigma of Severe Factor XI Deficiency without Hemorrhagic Symptoms

Distinction from Hageman Factor and “Fletcher Factor” Deficiency; Family Study; and Problems of Diagnosis
J. R Edson M. D.
1   Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455
,
J. G White M. D.
1   Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455
,
W Krivit M. D., PH. D.
1   Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455
› Author AffiliationsSupported by grants from the Minnesota Chapter of the National Hemophilia Foundation, the Minnesota Heart Association, the Graduate School of the University of Minnesota, the American Cancer Society, the Public Health Service Research Grant No. CA08832 from the National Cancer Institute, and Public Health Service Research Grant No. AM02917.
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Publication History

Publication Date:
26 June 2018 (online)

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Summary

A case of very severe P. T. A. deficiency without hemorrhagic symptoms is described, and the possibility that the absence of a bleeding diathesis may have an explanation in the presently unknown interrelationship between 3 “contact phase” coagulation factors is suggested. The existence of “Fletcher factor” deficiency as an entity distinct from factor XI and XII deficiency is confirmed. The problems in establishing a diagnosis of P. T. A. deficiency are discussed. The authors believe that assay using known congenitally deficient plasma is the only certain method of diagnosing P. T. A. deficiency. The 3 members of the propositus’s family have minor P. T. A. deficiency, and the mode of inheritance in this family is consistent with the hypothesis of Rapaport et al.

 

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