Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant

Am J Hematol. 1994 Jul;46(3):214-7. doi: 10.1002/ajh.2830460310.

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.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Family Health
  • Female
  • Genetic Variation
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Pedigree
  • Protein S Deficiency*
  • Thrombophlebitis / epidemiology
  • Thrombophlebitis / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Rainier