title: A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India.
abstract: An elevated HbA(2) (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA(2), resulting in heterozygous β-thalassemia with normal levels of HbA(2). In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA(2) levels.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, Tamilnadu, India.
authors.forename: Sachin
authors.initials: S
authors.lastname: Jain
authors.forename: Eunice S
authors.initials: ES
authors.lastname: Edison
authors.forename: Vikram
authors.initials: V
authors.lastname: Mathews
authors.forename: R V
authors.initials: RV
authors.lastname: Shaji
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006443:Hemoglobin A2 / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics; D055546:delta-Globins / Q000235:genetics*
chemical_list: D055546:delta-Globins; D006443:Hemoglobin A2