A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC

被引：8
|
作者：
Edison, E. S. [1 ]
Sathya, M. [1 ]
Rajkumar, S. V. [1 ]
Nair, S. C. [2 ]
Srivastava, A. [1 ]
Shaji, R. V. [1 ]
机构：
[1] Christian Med Coll & Hosp, Dept Haematol, Vellore 632004, Tamil Nadu, India
[2] Christian Med Coll & Hosp, Dept Immunohaematol & Transfus Med, Vellore 632004, Tamil Nadu, India
来源：
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY | 2012年 / 34卷 / 05期
关键词：
Hemoglobin variant; sickle; HPLC;
D O I：
10.1111/j.1751-553X.2012.01418.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Hemoglobinopathies are highly prevalent in Indian population. DNA analysis to detect causative mutations is required for identifying rare hemoglobin variants or when hematological results are discordant with the clinical phenotype. In this report, we describe a novel hemoglobin variant caused by a mutation in beta-globin gene, Codon 7 GAG?CAG (Glu?Gln) that elutes in the position of sickle haemoglobin (HbS) in cation exchange high performance liquid chromatography. This report highlights possible diagnostic pitfalls in interpreting data solely based on haemoglobin analysis and usefulness of mutation screening in definitive diagnosis of hemoglobinopathies.
引用
收藏
页码：556 / 558
页数：3
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