title: Identification of a novel δ-globin gene mutation in an Iranian family.
abstract: δ-Thalassemia (δ-thal) has no clinical symptoms, but its coinheritance with β-thal may cause misdiagnosis, especially in countries with a high prevalence of β-thal where prevention programs have been implemented. The molecular basis of most β-thal syndromes have been defined, while the spectrum of mutations causing δ-thal have not been well characterized. A couple was referred to us for thalassemia molecular screening. Since she had rather low values of Hb A₂ and normal Hb F, her δ-globin gene was amplified and directly sequenced. We found two different mutations on her δ-globin genes: HBD: c.92+5G>T/HBD:c.428C>A. The c.92+5G>T mutation has not been previously reported. Two different mutations in trans may explain the reduced Hb A₂ level.
authors.affiliation: Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Azam
authors.initials: A
authors.lastname: Amirian
authors.forename: Masoomeh
authors.initials: M
authors.lastname: Jafarinejad
authors.forename: Alireza R
authors.initials: AR
authors.lastname: Kordafshari
authors.forename: Marjan
authors.initials: M
authors.lastname: Mosayyebzadeh
authors.forename: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006443:Hemoglobin A2 / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D055546:delta-Globins / Q000235:genetics*; D055538:delta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics
chemical_list: D055546:delta-Globins; D006443:Hemoglobin A2