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A new case of high‐molecular‐weight kininogen inherited deficiency
Author(s) -
Lefrère JeanJacques,
Horellou MarieHélène,
Gozin Danièle,
Conard Jacqueline,
Muller JeanYves,
Clark Michael,
Soulier JeanPierre,
Samama Meyer
Publication year - 1986
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830220411
Subject(s) - high molecular weight kininogen , partial thromboplastin time , prekallikrein , factor xii , hemostasis , medicine , coagulation , endocrinology , plasminogen activator , thromboplastin , fibrinolysis , kininogen , proband , gastroenterology , kallikrein , chemistry , biochemistry , bradykinin , enzyme , receptor , gene , mutation
A preoperative hemostasis study discovered a prolonged activated partial thrombo‐plastin time in a 23‐year‐old Portuguese Caucasian woman without personal or past family history of hemorrhage or thrombosis. This was corrected by pooled plasma that excluded circulating anticoagulant. Activated partial thromboplastin time was prolonged whatever the activator, particularly ellagic acid, and was not corrected by prolonged kaolin incubation. Levels of factors VIII and XII were normal; factor XI and prekallikrein levels were either moderately low or normal according to activators and defective reagents used. High‐molecular‐weight kininogen (HMWK) level assessed by coagulation and immunological method was virtually nil. Fibrinolysis activity was normal before and after veinous occlusion. The programmed operation was performed without any particular preparation and no complication arose. Family investigation found heterozygous HMWK deficiency in the proposita's father and three of her siblings.