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.Reportar como inadecuado




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. - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

* 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





Autor: Azam Amirian - Morteza Karimipoor - Masoumeh Jafarinejad - Maryam Taghavi - Alireza Kordafshari - Samaneh Fathi Azar - Malihe Sad

Fuente: https://hal.archives-ouvertes.fr/



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