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Arch Iran Med. 2011;14(1): 8-11.
PMID: 21194254
Scopus ID: 79551483912
  Abstract View: 999
  PDF Download: 611

Original Article

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

Azam Amirian, Morteza Karimipoor, Masoumeh Jafarinejad, Maryam Taghavi, Alireza Kordafshari, Samaneh Fathi Azar, Malihe Sadat Mohammadi, Sirous Zeinali

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.

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ePublished: 01 Jan 2011
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