Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G>A] with Decreased Oxygen Affinity

被引：1
|
作者：
Karow, Axel [1 ]
Eekels, Julia J. M. [1 ]
Zurbriggen, Karin [1 ]
Schmid, Marlis [1 ]
Schmugge, Markus [1 ]
Speer, Oliver [1 ]
机构：
[1] Univ Childrens Hosp, Div Haematol, Steinwiessstr 75, CH-8032 Zurich, Switzerland
来源：
HEMOGLOBIN | 2015年 / 39卷 / 06期
关键词：
alpha-Globin variant; hemoglobin (Hb); microcytosis; PolyCAT A high performance liquid chromatography (HPLC); HEMOGLOBIN-VARIANTS; MASS-SPECTROMETRY;
D O I：
10.3109/03630269.2015.1068798
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：
A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchange high performance liquid chromatography (HPLC), revealed two additional peaks eluting after Hb A and DNA sequencing uncovered a novel heterozygous mutation at codon 64 of the alpha 1-globin gene. The hemoglobin (Hb) variant was annotated as Hb G-Waimanalo [A1]. Further analyses demonstrated a decreased oxygen affinity Hb compared to the normal Hb configuration.
引用
收藏
页码：432 / 434
页数：3
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