HEMOGLOBIN DHONBURI ALPHA-2-BETA-2 126 (H4) VAL-]GLY - A NEW UNSTABLE BETA-VARIANT PRODUCING A BETA-THALASSEMIA INTERMEDIA PHENOTYPE IN ASSOCIATION WITH BETA-0-THALASSEMIA

被引：24

作者：

BARDAKDJIANMICHAU, J

FUCHAROEN, S

DELANOEGARIN, J

KISTER, J

LACOMBE, C

WINICHAGOON, P

BLOUQUIT, Y

RIOU, J

WASI, P

GALACTEROS, F

机构：

[1] HOP HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE

[2] HOP HENRI MONDOR,CNRS,URA 607,F-94010 CRETEIL,FRANCE

[3] MAHIDOL UNIV,SIRIRAJ HOSP,DIV HEMATOL,BANGKOK 10700,THAILAND

[4] HOP KREMLIN BICETRE,INSERM,U299,F-94275 LE KREMLIN BICETR,FRANCE

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 1990年 / 35卷 / 02期

关键词：

IEF; unstable Hb; β°‐thalassemia intermedia;

D O I：

10.1002/ajh.2830350206

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

While investigating the mechanism of a β‐thalassemia intermedia phenotype in a 34 year old Thai male, a new Hb variant β 126 Val → Gly named Hb Dhonburi was discovered. Genetic and structural studies revealed the existence of a β°‐thalassemia genotype in association with the β variant. The new variant is unstable but exhibits normal oxygen binding properties. Hb Dhonburi was also discovered in the mother of the propositus in association with Hb E. Copyright © 1990 Wiley‐Liss, Inc., A Wiley Company

引用

页码：96 / 99

页数：4

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[21] HAEMATOLOGICAL EFFECTS OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND THALASSAEMIA TRAIT - INTERACTION BETWEEN 2 GENES AT PHENOTYPE LEVEL [J].