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A novel β‐globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC
Author(s) -
EDISON E. S.,
SATHYA M.,
RAJKUMAR S. V.,
NAIR S. C.,
SRIVASTAVA A.,
SHAJI R. V.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2012.01418.x
Subject(s) - hemoglobin variants , hemoglobinopathy , mutation , hemoglobin , globin , genetics , gene , biology , microbiology and biotechnology , phenotype , hemoglobin c , hemoglobin s , gene mutation , population , hemolytic anemia , medicine , immunology , biochemistry , sickle cell anemia , cell , environmental health
Summary 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.