Phenotype of mutations in the promoter region of the β-globin gene. Ropero, P., Erquiaga, S., Arrizabalaga, B., Germán Pérez, Pérez, G. S., Germán Pérez, de la Iglesia, S., Torrejon, M. J., Torrejón, M. J., Gil, C., Elena, C., Tenorio, M. T., Nieto, J. M., de la Fuente-Gonzalo, F., Villegas, A., Fernández, F. G., & Martínez, R. Journal of Clinical Pathology, 70(10):874–878, October, 2017. MAG ID: 2605084244doi abstract bibtex Background β + -Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far. Aims In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid. Methods Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR. Results 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box. Conclusions Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.
@article{ropero_phenotype_2017,
title = {Phenotype of mutations in the promoter region of the β-globin gene},
volume = {70},
doi = {10.1136/jclinpath-2017-204378},
abstract = {Background β + -Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far. Aims In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid. Methods Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR. Results 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box. Conclusions Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.},
number = {10},
journal = {Journal of Clinical Pathology},
author = {Ropero, Paloma and Erquiaga, Sara and Arrizabalaga, Beatriz and {Germán Pérez} and Pérez, Germán Santana and {Germán Pérez} and de la Iglesia, Silvia and Torrejon, Maria Josefa and Torrejón, María José and Gil, Celia and Elena, Cela and Tenorio, Maria Teresa and Nieto, Jorge M. and de la Fuente-Gonzalo, Félix and Villegas, Ana and Fernández, Fernando-Ataúlfo González and Martínez, Rafael},
month = oct,
year = {2017},
doi = {10.1136/jclinpath-2017-204378},
pmid = {28385923},
note = {MAG ID: 2605084244},
pages = {874--878},
}
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In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far. Aims In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid. Methods Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR. Results 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box. Conclusions Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.","number":"10","journal":"Journal of Clinical Pathology","author":[{"propositions":[],"lastnames":["Ropero"],"firstnames":["Paloma"],"suffixes":[]},{"propositions":[],"lastnames":["Erquiaga"],"firstnames":["Sara"],"suffixes":[]},{"propositions":[],"lastnames":["Arrizabalaga"],"firstnames":["Beatriz"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Germán Pérez"],"suffixes":[]},{"propositions":[],"lastnames":["Pérez"],"firstnames":["Germán","Santana"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Germán Pérez"],"suffixes":[]},{"propositions":["de","la"],"lastnames":["Iglesia"],"firstnames":["Silvia"],"suffixes":[]},{"propositions":[],"lastnames":["Torrejon"],"firstnames":["Maria","Josefa"],"suffixes":[]},{"propositions":[],"lastnames":["Torrejón"],"firstnames":["María","José"],"suffixes":[]},{"propositions":[],"lastnames":["Gil"],"firstnames":["Celia"],"suffixes":[]},{"propositions":[],"lastnames":["Elena"],"firstnames":["Cela"],"suffixes":[]},{"propositions":[],"lastnames":["Tenorio"],"firstnames":["Maria","Teresa"],"suffixes":[]},{"propositions":[],"lastnames":["Nieto"],"firstnames":["Jorge","M."],"suffixes":[]},{"propositions":["de","la"],"lastnames":["Fuente-Gonzalo"],"firstnames":["Félix"],"suffixes":[]},{"propositions":[],"lastnames":["Villegas"],"firstnames":["Ana"],"suffixes":[]},{"propositions":[],"lastnames":["Fernández"],"firstnames":["Fernando-Ataúlfo","González"],"suffixes":[]},{"propositions":[],"lastnames":["Martínez"],"firstnames":["Rafael"],"suffixes":[]}],"month":"October","year":"2017","pmid":"28385923","note":"MAG ID: 2605084244","pages":"874–878","bibtex":"@article{ropero_phenotype_2017,\n\ttitle = {Phenotype of mutations in the promoter region of the β-globin gene},\n\tvolume = {70},\n\tdoi = {10.1136/jclinpath-2017-204378},\n\tabstract = {Background β + -Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far. Aims In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid. Methods Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR. Results 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box. Conclusions Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.},\n\tnumber = {10},\n\tjournal = {Journal of Clinical Pathology},\n\tauthor = {Ropero, Paloma and Erquiaga, Sara and Arrizabalaga, Beatriz and {Germán Pérez} and Pérez, Germán Santana and {Germán Pérez} and de la Iglesia, Silvia and Torrejon, Maria Josefa and Torrejón, María José and Gil, Celia and Elena, Cela and Tenorio, Maria Teresa and Nieto, Jorge M. and de la Fuente-Gonzalo, Félix and Villegas, Ana and Fernández, Fernando-Ataúlfo González and Martínez, Rafael},\n\tmonth = oct,\n\tyear = {2017},\n\tdoi = {10.1136/jclinpath-2017-204378},\n\tpmid = {28385923},\n\tnote = {MAG ID: 2605084244},\n\tpages = {874--878},\n}\n\n","author_short":["Ropero, P.","Erquiaga, S.","Arrizabalaga, B.","Germán Pérez","Pérez, G. S.","Germán Pérez","de la Iglesia, S.","Torrejon, M. J.","Torrejón, M. J.","Gil, C.","Elena, C.","Tenorio, M. T.","Nieto, J. M.","de la Fuente-Gonzalo, F.","Villegas, A.","Fernández, F. G.","Martínez, R."],"key":"ropero_phenotype_2017","id":"ropero_phenotype_2017","bibbaseid":"ropero-erquiaga-arrizabalaga-germnprez-prez-germnprez-delaiglesia-torrejon-etal-phenotypeofmutationsinthepromoterregionoftheglobingene-2017","role":"author","urls":{},"metadata":{"authorlinks":{}},"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["phenotype","mutations","promoter","region","globin","gene","ropero","erquiaga","arrizabalaga","germán pérez","pérez","germán pérez","de la iglesia","torrejon","torrejón","gil","elena","tenorio","nieto","de la fuente-gonzalo","villegas","fernández","martínez"],"title":"Phenotype of mutations in the promoter region of the β-globin gene","year":2017}