A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE

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HAMID MOHAMMAD; BOKHARAEI MERCI HANIEH; GALEHDARI HAMID; SABERI ALI HOSSEIN; KAIKHAEI BIJAN; MOHAMMADI ANAEI MARZIYE; AHMADZADEH AHMAD; SHARIATI GHOLAMREZA

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2014 | Volume:17 | Issue:7 Page(s): 475-476

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Title

A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE

Author(s)

Keywords

IRAN

α-GLOBIN GENE MUTATION

α- THALASSEMIA

Abstract

In this study, a new alpha globin gene mutation on the a2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern IRAN of Lor ethnicity. This mutation caused no severe hematological abnormalities in the carriers. From the nature of substituted residues in a2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.

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APA: Copy

HAMID, MOHAMMAD, BOKHARAEI MERCI, HANIEH, GALEHDARI, HAMID, SABERI, ALI HOSSEIN, KAIKHAEI, BIJAN, MOHAMMADI ANAEI, MARZIYE, AHMADZADEH, AHMAD, & SHARIATI, GHOLAMREZA. (2014). A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE. ARCHIVES OF IRANIAN MEDICINE, 17(7), 475-476. SID. https://sid.ir/paper/280995/en

Vancouver: Copy

HAMID MOHAMMAD, BOKHARAEI MERCI HANIEH, GALEHDARI HAMID, SABERI ALI HOSSEIN, KAIKHAEI BIJAN, MOHAMMADI ANAEI MARZIYE, AHMADZADEH AHMAD, SHARIATI GHOLAMREZA. A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2014;17(7):475-476. Available from: https://sid.ir/paper/280995/en

IEEE: Copy

MOHAMMAD HAMID, HANIEH BOKHARAEI MERCI, HAMID GALEHDARI, ALI HOSSEIN SABERI, BIJAN KAIKHAEI, MARZIYE MOHAMMADI ANAEI, AHMAD AHMADZADEH, and GHOLAMREZA SHARIATI, “A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE,” ARCHIVES OF IRANIAN MEDICINE, vol. 17, no. 7, pp. 475–476, 2014, [Online]. Available: https://sid.ir/paper/280995/en

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