Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death....
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Sociedade Brasileira de Genética
2017-10-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768&lng=en&tlng=en |
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| author | Natália O. Mota Elza M. Kimura Roberta D. Ferreira Gisele A. Pedroso Dulcinéia M. Albuquerque Daniela M. Ribeiro Magnun N. N. Santos Cristina M. Bittar Fernando F. Costa Maria de Fatima Sonati |
| author_facet | Natália O. Mota Elza M. Kimura Roberta D. Ferreira Gisele A. Pedroso Dulcinéia M. Albuquerque Daniela M. Ribeiro Magnun N. N. Santos Cristina M. Bittar Fernando F. Costa Maria de Fatima Sonati |
| author_sort | Natália O. Mota |
| collection | DOAJ |
| description | Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels.. |
| first_indexed | 2024-12-11T08:12:26Z |
| format | Article |
| id | doaj.art-ab8203e372444ae2907faa5cc288cb62 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T08:12:26Z |
| publishDate | 2017-10-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-ab8203e372444ae2907faa5cc288cb622022-12-22T01:14:51ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852017-10-0140476877310.1590/1678-4685-gmb-2016-0330S1415-47572017000500768Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patientsNatália O. MotaElza M. KimuraRoberta D. FerreiraGisele A. PedrosoDulcinéia M. AlbuquerqueDaniela M. RibeiroMagnun N. N. SantosCristina M. BittarFernando F. CostaMaria de Fatima SonatiAbstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768&lng=en&tlng=enα-ThalassemiaHb H diseasemultiplex ligation-dependent probe amplificationMLPABrazilian population |
| spellingShingle | Natália O. Mota Elza M. Kimura Roberta D. Ferreira Gisele A. Pedroso Dulcinéia M. Albuquerque Daniela M. Ribeiro Magnun N. N. Santos Cristina M. Bittar Fernando F. Costa Maria de Fatima Sonati Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients Genetics and Molecular Biology α-Thalassemia Hb H disease multiplex ligation-dependent probe amplification MLPA Brazilian population |
| title | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients |
| title_full | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients |
| title_fullStr | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients |
| title_full_unstemmed | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients |
| title_short | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients |
| title_sort | rare α0 thalassemia deletions detected by mlpa in five unrelated brazilian patients |
| topic | α-Thalassemia Hb H disease multiplex ligation-dependent probe amplification MLPA Brazilian population |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768&lng=en&tlng=en |
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