Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant
Corresponding Author
Dr. M. Berruyer
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Laboratoire d'Hémostase, Hôpital Cardio-Vasculaire et Pneumologique Louis Pradel, 28, Avenue du Doyen Lépine, 69500 Bron, FranceSearch for more papers by this authorA. Francina
Unite de Pathologie Molkculaire, Federation de Biochirnie, Hdpital Edouard Herriot, Lyon, France
Search for more papers by this authorP. Ffrench
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorC. Negrier
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorB. Boneu
Centre Regional de Transfusion Sanguine, Hdpital Purpan, Toulouse, France
Search for more papers by this authorM. Dechavanne
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorCorresponding Author
Dr. M. Berruyer
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Laboratoire d'Hémostase, Hôpital Cardio-Vasculaire et Pneumologique Louis Pradel, 28, Avenue du Doyen Lépine, 69500 Bron, FranceSearch for more papers by this authorA. Francina
Unite de Pathologie Molkculaire, Federation de Biochirnie, Hdpital Edouard Herriot, Lyon, France
Search for more papers by this authorP. Ffrench
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorC. Negrier
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorB. Boneu
Centre Regional de Transfusion Sanguine, Hdpital Purpan, Toulouse, France
Search for more papers by this authorM. Dechavanne
Laboratoire d'Hernostase, Hdpital Cardiologique, and INSERM U 331, Lyon, France
Search for more papers by this authorAbstract
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.
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