title: A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC.
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.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, India.
authors.forename: E S
authors.initials: ES
authors.lastname: Edison
authors.forename: M
authors.initials: M
authors.lastname: Sathya
authors.forename: S V
authors.initials: SV
authors.lastname: Rajkumar
authors.forename: S C
authors.initials: SC
authors.lastname: Nair
authors.forename: A
authors.initials: A
authors.lastname: Srivastava
authors.forename: R V
authors.initials: RV
authors.lastname: Shaji
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C578188:hemoglobin Vellore