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

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 ¹ Morteza Karimipoor ¹ Masoumeh Jafarinejad ¹ Maryam Taghavi ¹ Alireza Kordafshari ¹ Samaneh Fathi Azar ¹ Malihe Sadat Mohammadi ¹ Sirous Zeinali ^{1, 2, *}

* Corresponding author

1 Biotechnology Research Center

2 Kawsar Human Genetics Research Center

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.

keyword : -thalassemia beta -globin HbA2-NYU Iran

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Journal articles

Domain :

Life Sciences [q-bio] / Genetics

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Submitted on : Saturday, June 1, 2013 - 9:11:09 AM
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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.

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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.

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