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
| Autoři: | Amirian, Azam, Karimipoor, Morteza, Jafarinejad, Masoumeh, Taghavi, Maryam, Kordafshari, Alireza, Fathi Azar, Samaneh, Mohammadi, Malihe Sadat, Zeinali, Sirous |
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| Přispěvatelé: | Biotechnology Research Center, Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Kawsar Human Genetics Research Center, Kawsar Genomics and Biotech Cente, This research was supported by the Pasteur Institute of Iran. |
| Zdroj: | Archives of Iranian Medicine Archives of Iranian Medicine, Academy of Medical Sciences of the I.R. Iran, 2011, 14 (1), pp.8-11 |
| Informace o vydavateli: | HAL CCSD, 2011. |
| Rok vydání: | 2011 |
| Témata: | Adult, Male, MESH: delta-Thalassemia, Hemoglobins, Abnormal, DNA Mutational Analysis, Inheritance Patterns, beta-Globins, Iran, MESH: Hemoglobin A2, Polymerase Chain Reaction, Diagnosis, Differential, thalassemia, MESH: delta-Globins, MESH: Diagnosis, Differential, Humans, Mass Screening, Point Mutation, MESH: Mass Screening, Hemoglobin A2, MESH: DNA Mutational Analysis, MESH: Hemoglobins, Abnormal, MESH: Point Mutation, delta-Globins, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Middle Aged, beta-Thalassemia, beta -globin, MESH: Adult, MESH: Polymerase Chain Reaction, MESH: beta-Globins, MESH: beta-Thalassemia, Middle Aged, MESH: Male, delta-Thalassemia, MESH: Iran, HbA2-NYU, Female, MESH: Inheritance Patterns, MESH: Female |
| Popis: | International audience; 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. |
| Jazyk: | English |
| ISSN: | 1029-2977 1735-3947 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::13e5d7c60e25de31dba3924e51147df5 https://hal-riip.archives-ouvertes.fr/pasteur-00829009/document |
| Přírůstkové číslo: | edsair.pmid.dedup....13e5d7c60e25de31dba3924e51147df5 |
| Autor: | Amirian, Azam, Karimipoor, Morteza, Jafarinejad, Masoumeh, Taghavi, Maryam, Kordafshari, Alireza, Fathi Azar, Samaneh, Mohammadi, Malihe Sadat, Zeinali, Sirous |
| Přispěvatelé: | Biotechnology Research Center, Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Kawsar Human Genetics Research Center, Kawsar Genomics and Biotech Cente, This research was supported by the Pasteur Institute of Iran. |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male MESH: delta-Thalassemia Hemoglobins Abnormal DNA Mutational Analysis Inheritance Patterns beta-Globins Iran MESH: Hemoglobin A2 Polymerase Chain Reaction Diagnosis Differential thalassemia MESH: delta-Globins MESH: Diagnosis Differential Humans Mass Screening Point Mutation MESH: Mass Screening Hemoglobin A2 MESH: DNA Mutational Analysis MESH: Hemoglobins Abnormal MESH: Point Mutation delta-Globins [SDV.GEN]Life Sciences [q-bio]/Genetics MESH: Humans MESH: Middle Aged beta-Thalassemia beta -globin MESH: Adult MESH: Polymerase Chain Reaction MESH: beta-Globins MESH: beta-Thalassemia Middle Aged MESH: Male delta-Thalassemia MESH: Iran HbA2-NYU Female MESH: Inheritance Patterns MESH: Female |
| Zdroj: | Archives of Iranian Medicine Archives of Iranian Medicine, Academy of Medical Sciences of the I.R. Iran, 2011, 14 (1), pp.8-11 |
| ISSN: | 1029-2977 1735-3947 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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