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

E. S. Edison, M. Sathya, S. V. Rajkumar, S. C. Nair, A. Srivastava, Ramachandhran V. Shaji

Research output: Contribution to journalArticle

5 Scopus citations

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 languageEnglish (US)
Pages (from-to)556-558
Number of pages3
JournalInternational Journal of Laboratory Hematology
Volume34
Issue number5
DOIs
StatePublished - Oct 1 2012

Keywords

  • HPLC
  • Hemoglobin variant
  • Sickle

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

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