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Two new examples of Hb St. Etienne [beta 92(F8)HisGln] in association with venous thrombosis

Nicholas H C Au1, Ann Y K Wong, Linda Vickars

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.

Hemoglobin
|April 18, 2009
PubMed

Hb St. Etienne [beta92(F8)HisGln] (also known as Hb Istanbul) is a rare unstable beta-globin chain variant that has been described in only three reports involving four patients. We report two individuals in a family of Scottish extraction whose members had been erroneously diagnosed to have hereditary spherocytosis (HS) and have now been shown to be heterozygotes for Hb St. Etienne. They also had venous thrombotic events with minimal provocation. This family illustrates the difficulties in identifying the cause of chronic hemolytic anemia and highlights the possible contribution of chronic hemolysis to increased risk of thrombosis.

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