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Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant
Author(s) -
Berruyer M.,
Francina A.,
Ffrench P.,
Negrier C.,
Boneu B.,
Dechavanne M.
Publication year - 1994
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.2830460310
Subject(s) - hemoglobin , thrombosis , blood viscosity , medicine , incidence (geometry) , endocrinology , gastroenterology , optics , physics
Inherited protein S deficiency and the presence of a rare high oxygen affinity hemoglobin variant: Hb Rainier [β 145 (HC2) Tyr → Cys] were found in a family. Among 16 studied members, nine were found as carriers of protein S deficiency (type I with decrease of total, free, and activity levels). Six subjects carried the high‐affinity hemoglobin variant, which displayed an increase of blood viscosity. Four members combined both abnormalities. Three had thrombotic accidents before the age of 30. We suggest the combination of protein S deficiency and the presence of this hemoglobin variant can lead to a severe primary hypercoagulable state with pathological consequences compared to each genetic defect alone. © 1994 Wiley‐Liss, Inc.