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. - RIIP - Réseau International des Instituts Pasteur Access content directly
Journal Articles Archives of Iranian Medicine Year : 2011

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. DISCUSSION: 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.

Domains

Genetics
Fichier principal
Vignette du fichier
003.pdf (87.28 Ko) Télécharger le fichier
Origin : Publisher files allowed on an open archive
Loading...

Dates and versions

pasteur-00829009 , version 1 (01-06-2013)

Identifiers

  • HAL Id : pasteur-00829009 , version 1
  • PUBMED : 21194254

Cite

Azam Amirian, Morteza Karimipoor, Masoumeh Jafarinejad, Maryam Taghavi, Alireza Kordafshari, et al.. 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.. Archives of Iranian Medicine, 2011, 14 (1), pp.8-11. ⟨pasteur-00829009⟩

Collections

RIIP RIIP_IRAN
173 View
210 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More