Two New Examples of Hb St. Etienne [ 92(F8)HisGln] in Association with Venous Thrombosis

被引：8

作者：

Au, Nicholas H. C.

Wong, Ann Y. K.

Vickars, Linda

MacGillivray, Ross T. A.

Wadsworth, Louis D.

机构：

[1] Department of Pathology, Laboratory Medicine, University of British Columbia, Vancouver, BC

[2] Division of Haematopathology, Children's and Women's Health Centre of British Columbia, Vancouver, BC

[3] Centre for Blood Research, Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC

[4] Department of Haematology, St. Paul's Hospital, Vancouver, BC

[5] Division of Haematopathology Children's, Women's Health Centre of British Columbia, Vancouver, BC V6H 3V4

来源：

HEMOGLOBIN | 2009年 / 33卷 / 02期

关键词：

Hemoglobinopathies; Hb St; Etienne; Hb Istanbul; Unstable hemoglobin (Hb); Veno-occlusive disease; Hemolytic anemia; PROXIMAL HISTIDINE; SAINT-ETIENNE; HEMOGLOBIN; SPLENECTOMY; ISTANBUL;

D O I：

10.1080/03630260902817206

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Hb St. Etienne [92(F8)HisGln] (also known as Hb Istanbul) is a rare unstable -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.

引用

页码：95 / 100

页数：6

共 10 条

[1] HEMOGLOBIN ISTANBUL - SUBSTITUTION OF GLUTAMINE FOR HISTIDINE IN A PROXIMAL HISTIDINE (F8(92)BETA) [J].