Abstract
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.
Original language | English (US) |
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Pages (from-to) | 556-558 |
Number of pages | 3 |
Journal | International Journal of Laboratory Hematology |
Volume | 34 |
Issue number | 5 |
DOIs | |
State | Published - Oct 2012 |
Keywords
- HPLC
- Hemoglobin variant
- Sickle
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Biochemistry, medical