Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements
The aim of this study was to describe the changing pattern of mutational spectrum of 𝛽-thalassemia (𝛽-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations. From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes an...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Advances in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2010/317542 |
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| author | Antonio Amato Maria Pia Cappabianca Alessia Colosimo Maria Perri Paola Grisanti Ivo Zaghis Donatella Ponzini Maria Lerone |
| author_facet | Antonio Amato Maria Pia Cappabianca Alessia Colosimo Maria Perri Paola Grisanti Ivo Zaghis Donatella Ponzini Maria Lerone |
| author_sort | Antonio Amato |
| collection | DOAJ |
| description | The aim of this study was to describe the changing pattern of mutational spectrum of 𝛽-thalassemia (𝛽-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations.
From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes and 65 homozygotes or compound heterozygotes) coming from 44 different foreign countries, have been molecularly characterized.
14 𝛽-globin gene mutations were identified and their frequencies reflect different ethnic origins: 8 of these mutations account for 76.97% of all molecular defects, while 6 of them are much rare, representing less than 2% of the total.
These data differ, both in type and percentage, from the mutational spectrum detected in the native population in 1995. Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group. |
| format | Article |
| id | doaj-art-b4fc9a1cb8534fe99e4000426bb177ba |
| institution | Kabale University |
| issn | 1687-9104 1687-9112 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Advances in Hematology |
| spelling | doaj-art-b4fc9a1cb8534fe99e4000426bb177ba2025-02-03T01:24:40ZengWileyAdvances in Hematology1687-91041687-91122010-01-01201010.1155/2010/317542317542Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration MovementsAntonio Amato0Maria Pia Cappabianca1Alessia Colosimo2Maria Perri3Paola Grisanti4Ivo Zaghis5Donatella Ponzini6Maria Lerone7ANMI Onlus, Centro Studi Microcitemie, Rome, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyDepartment of Comparative Biomedical Sciencies, University of Teramo, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyANMI Onlus, Centro Studi Microcitemie, Rome, ItalyThe aim of this study was to describe the changing pattern of mutational spectrum of 𝛽-thalassemia (𝛽-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations. From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes and 65 homozygotes or compound heterozygotes) coming from 44 different foreign countries, have been molecularly characterized. 14 𝛽-globin gene mutations were identified and their frequencies reflect different ethnic origins: 8 of these mutations account for 76.97% of all molecular defects, while 6 of them are much rare, representing less than 2% of the total. These data differ, both in type and percentage, from the mutational spectrum detected in the native population in 1995. Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group.http://dx.doi.org/10.1155/2010/317542 |
| spellingShingle | Antonio Amato Maria Pia Cappabianca Alessia Colosimo Maria Perri Paola Grisanti Ivo Zaghis Donatella Ponzini Maria Lerone Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements Advances in Hematology |
| title | Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements |
| title_full | Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements |
| title_fullStr | Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements |
| title_full_unstemmed | Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements |
| title_short | Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements |
| title_sort | current genetic epidemiology of 𝛽 thalassemias and structural hemoglobin variants in the lazio region central italy following recent migration movements |
| url | http://dx.doi.org/10.1155/2010/317542 |
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