M. Berruyer et al., INCREASED THROMBOSIS INCIDENCE IN A FAMILY WITH AN INHERITED PROTEIN-S DEFICIENCY AND A HIGH OXYGEN-AFFINITY HEMOGLOBIN-VARIANT, American journal of hematology, 46(3), 1994, pp. 214-217
Inherited protein S deficiency and the presence of a rare high oxygen
affinity hemoglobin variant: Hb Rainier [beta 145 (HC2) Tyr --> Cys] w
ere found in a family. Among 16 studied members, nine were found as ca
rriers of protein S deficiency (type I with decrease of total, free, a
nd 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 th
e age of 30. We suggest the combination of protein S deficiency and th
e presence of this hemoglobin variant can lead to a severe primary hyp
ercoagulable state with pathological consequences compared to each gen
etic defect alone. (C) 1994 Wiley-Liss, Inc.