مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Cites:

1

Information Journal Paper

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

Pages

  8-11

Abstract

 Background: Co-inheritance of b- and d-globin mutations in IRAN is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of a- and b-thalassemia in screening programs. Here we report the co-inheritance of b- and d-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A2 (HbA2) level.Methods: Genomic DNA extraction, amplication refractory mutation system (ARMS) polymerase chain reaction and direct DNA sequencing of d- and b-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 b+ IVSI-5 (G to C) mutation and direct DNA sequencing of the d-globin gene detected a previously reported delta codon 12 (AATaAAA) HBA2-NYU. This study reports HBA2-NYU in association with the b IVSI-5 (G to C) mutation in IRAN.Discussion: This report emphasizes that normal HbA2 expression in a b-goblin carrier is due to mutation in the d-globin gene and may cause misdiagnosis of thalassemia.

Cites

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    • Cite

    APA: Copy

    AMIRIAN, AZAM, KARIMIPOOR, MORTEZA, JAFARINEJAD, MASOUMEH, TAGHAVI BASMANJ, MARYAM, KORDAFSHARI, ALIREZA, FATHI AZAR, SAMANEH, MOHAMMADI, MALIHE SADAT, & ZEINALI, SIROUS. (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. ARCHIVES OF IRANIAN MEDICINE, 14(1), 8-11. SID. https://sid.ir/paper/280715/en

    Vancouver: Copy

    AMIRIAN AZAM, KARIMIPOOR MORTEZA, JAFARINEJAD MASOUMEH, TAGHAVI BASMANJ MARYAM, KORDAFSHARI ALIREZA, FATHI AZAR SAMANEH, MOHAMMADI MALIHE SADAT, ZEINALI SIROUS. 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[Internet]. 2011;14(1):8-11. Available from: https://sid.ir/paper/280715/en

    IEEE: Copy

    AZAM AMIRIAN, MORTEZA KARIMIPOOR, MASOUMEH JAFARINEJAD, MARYAM TAGHAVI BASMANJ, ALIREZA KORDAFSHARI, SAMANEH FATHI AZAR, MALIHE SADAT MOHAMMADI, and 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,” ARCHIVES OF IRANIAN MEDICINE, vol. 14, no. 1, pp. 8–11, 2011, [Online]. Available: https://sid.ir/paper/280715/en

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