Two New Examples of Hb St. Etienne [β 92(F8)His→Gln] in Association with Venous Thrombosis

Hb St. Etienne [β92(F8)His→Gln] (also known as Hb Istanbul) is a rare unstable β-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 sp...

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Bibliographic Details
Published in:Hemoglobin 2009, Vol.33 (2), p.95-100
Main Authors: Au, Nicholas H.C., Wong, Ann Y.K., Vickars, Linda, MacGillivray, Ross T.A., Wadsworth, Louis D.
Format: Article
Language:English
Subjects:
Adolescent
Base Sequence
DNA Mutational Analysis
Female
Hb Istanbul
Hb St. Etienne
Hemoglobinopathies
Hemoglobins, Abnormal - genetics
Hemolytic anemia
Heterozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Scotland
Spherocytosis, Hereditary - diagnosis
Unstable hemoglobin (Hb)
Veno-occlusive disease
Venous Thrombosis - genetics
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Summary:Hb St. Etienne [β92(F8)His→Gln] (also known as Hb Istanbul) is a rare unstable β-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.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630260902817206