Two new examples of Hb St. Etienne [beta 92(F8)HisGln] in association with venous thrombosis.
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.
Au
Nicholas H C
NH
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
Wong
Ann Y K
AY
Vickars
Linda
L
MacGillivray
Ross T A
RT
Wadsworth
Louis D
LD
D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D012606:Scotland; D013103:Spherocytosis, Hereditary / Q000175:diagnosis; D020246:Venous Thrombosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C415475:hemoglobin Saint Etienne