title: Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant.
abstract: Inherited protein S deficiency and the presence of a rare high oxygen affinity hemoglobin variant: Hb Rainier [beta 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.
authors.affiliation: Laboratoire d'Hémostase, Hôpital Cardiologique, Lyon, France.
authors.forename: M
authors.initials: M
authors.lastname: Berruyer
authors.forename: A
authors.initials: A
authors.lastname: Francina
authors.forename: P
authors.initials: P
authors.lastname: Ffrench
authors.forename: C
authors.initials: C
authors.lastname: Negrier
authors.forename: B
authors.initials: B
authors.lastname: Boneu
authors.forename: M
authors.initials: M
authors.lastname: Dechavanne
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018455:Protein S Deficiency; D013924:Thrombophlebitis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C046444:hemoglobin Rainier