title: First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA₂-NYU in Iran.
abstract: BACKGROUND
  Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level.
  
  
  METHODS
  Genomic DNA extraction, amplification refractory mutation system (ARMS) polymerase chain reaction and direct DNA sequencing of δ- and β-globin genes were exploited for detection of the mutations in these two genes in an individual with low hematological indices and normal HbA₂.
  
  
  RESULTS
  ARMS-PCR technique revealed the β(+) IVSI-5 (G to C) mutation and direct DNA sequencing of the δ-globin gene detected a previously reported delta codon 12 (AAT-->AAA) HbA2-NYU. This study reports HbA2-NYU in association with the β IVSI-5 (G to C) mutation in Iran.
  
  
  CONCLUSIONS
  This report emphasizes that normal HbA₂ expression in a β-goblin carrier is due to mutation in the δ-globin gene and may cause misdiagnosis of thalassemia.
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: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Jafarinejad
authors.forename: Maryam
authors.initials: M
authors.lastname: Taghavi
authors.forename: Alireza
authors.initials: A
authors.lastname: Kordafshari
authors.forename: Samaneh
authors.initials: S
authors.lastname: Fathi Azar
authors.forename: Malihe Sadat
authors.initials: MS
authors.lastname: Mohammadi
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D007492:Iran; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D055544:beta-Globins / Q000235:genetics*; 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: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D055546:delta-Globins; D006443:Hemoglobin A2; C039470:hemoglobin NYU