{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:00:31Z","timestamp":1789758031649,"version":"4.0.1"},"reference-count":18,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2017,3,16]]},"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\u03b2<jats:sup>+<\/jats:sup>-Thalassaemia is characterised by reduced production of \u03b2 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 \u03b2-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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>In this report we describe the mutations found in the promoter region of the \u03b2-globin gene in a single hospital in Madrid.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>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 \u03b2 and G\u03b3-globin genes was carried out by automatic sequencing and, in the case of \u03b1 genes, by multiplex PCR.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>35 samples showed mutation in the promoter region of the \u03b2-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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the \u03b2-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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jclinpath-2017-204378","type":"journal-article","created":{"date-parts":[[2017,4,6]],"date-time":"2017-04-06T22:34:28Z","timestamp":1491518068000},"page":"874-878","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":18,"title":["Phenotype of mutations in the promoter region of the \u03b2-globin gene"],"prefix":"10.1136","volume":"70","author":[{"given":"Paloma","family":"Ropero","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Erquiaga","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario de Cruces, Bilbao, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Arrizabalaga","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario de Cruces, Bilbao, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germ\u00e1n","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Marques de Valdecilla, Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"de la Iglesia","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario de Gran Canaria Dr. Negr\u00edn, Las Palmas de Gran Canaria, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Torrej\u00f3n","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Gil","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cela","family":"Elena","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Tenorio","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Ram\u00f3n y Cajal, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge M","family":"Nieto","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9lix","family":"de la Fuente-Gonzalo","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Villegas","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando-Ata\u00falfo","family":"Gonz\u00e1lez Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,4,6]]},"reference":[{"key":"2025092505283208000_70.10.874.1","unstructured":"Wheatherall DJ , Clegg JB . 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