{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T21:07:30Z","timestamp":1775423250674,"version":"3.50.1"},"reference-count":20,"publisher":"Akademiai Kiado Zrt.","issue":"24","license":[{"start":{"date-parts":[[2023,6,18]],"date-time":"2023-06-18T00:00:00Z","timestamp":1687046400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2023,6,18]]},"abstract":"<jats:p>K\u00f6zlem\u00e9ny\u00fcnkben egy 67 \u00e9ves f\u00e9rfi beteg eset\u00e9t mutatjuk be. A beteget gyenges\u00e9g\n                    \u00e9s ism\u00e9telt sz\u00e9d\u00fcl\u00e9s miatt vett\u00fck fel Klinik\u00e1nkra. Laborvizsg\u00e1latai s\u00falyos\n                    microcyt\u00e1s v\u00e9rszeg\u00e9nys\u00e9get jeleztek, emiatt a felv\u00e9telt k\u00f6vet\u0151 napokban 6 egys\u00e9g\n                    v\u00e1lasztott v\u00e9r transzf\u00fazi\u00f3j\u00e1ra szorult. Beteg\u00fcnkn\u00e9l a kivizsg\u00e1l\u00e1sa sor\u00e1n\n                    b\u00e9ta-thalassaemia minor igazol\u00f3dott, melyhez s\u00falyos B<jats:sub>12<\/jats:sub>-vitamin-hi\u00e1ny\n                    is t\u00e1rsult. Meglep\u0151 m\u00f3don a B<jats:sub>12<\/jats:sub>-vitamin-hi\u00e1nnyal p\u00e1rhuzamosan\n                    komplement medi\u00e1lta autoimmun hemol\u00edzisre utal\u00f3 laborelt\u00e9r\u00e9seket is \u00e9szlelt\u00fcnk.\n                    A beteg v\u00e9rk\u00e9pe a B<jats:sub>12<\/jats:sub>-vitamin-hi\u00e1ny korrig\u00e1l\u00e1s\u00e1t k\u00f6vet\u0151en\n                    rendez\u0151d\u00f6tt, \u00e9s az \u00e9szlelt immunol\u00f3giai elt\u00e9r\u00e9sek is megsz\u0171ntek. A hemoglobing\u00e9n\n                    genetikai vizsg\u00e1lata a c.118C&gt;T (p.Gln40STOP) vari\u00e1nst heterozig\u00f3ta form\u00e1ban\n                    igazolta. A b\u00e9ta-thalassaemia viszonylag gyakori hematol\u00f3giai megbeteged\u00e9snek\n                    sz\u00e1m\u00edt, b\u00e1r Magyarorsz\u00e1gon ritk\u00e1n tal\u00e1lkozhatunk vele. A betegek genetikai\n                    vizsg\u00e1lata a Debreceni Klinikai K\u00f6zpont Laborat\u00f3riumi Medicina Int\u00e9zet\u00e9ben\n                    lehets\u00e9ges. Publik\u00e1lt hazai epidemiol\u00f3giai adatokr\u00f3l nincs pontos tudom\u00e1sunk. A\n                    diagn\u00f3zis fel\u00e1ll\u00edt\u00e1s\u00e1t nehez\u00edtheti, ha a k\u00f3rk\u00e9p m\u00e1s hematol\u00f3giai\n                    rendelleness\u00e9gekkel is kombin\u00e1l\u00f3dik, mint a B<jats:sub>1<\/jats:sub><jats:sub>2<\/jats:sub>-vitamin\n                    hi\u00e1nya, mely bizonyos von\u00e1saiban a hemolitikus v\u00e9rszeg\u00e9nys\u00e9get k\u00e9pes klinikailag\n                    ut\u00e1nozni. Eset\u00fcnk irodalmi ritkas\u00e1gnak sz\u00e1m\u00edt, ez\u00e9rt pozit\u00edv csal\u00e1di anamn\u00e9zis\n                    eset\u00e9n javasolhat\u00f3 az egyenes \u00e1gi csal\u00e1dtagok sz\u0171r\u00e9se, mely esetleg\n                    megk\u00f6nny\u00edtheti egy k\u00e9s\u0151bbi diagn\u00f3zis pontos fel\u00e1ll\u00edt\u00e1s\u00e1t. Orv Hetil. 2023;\n                    164(24): 954\u2013960.<\/jats:p>","DOI":"10.1556\/650.2023.32769","type":"journal-article","created":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T03:55:25Z","timestamp":1687146925000},"page":"954-960","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":2,"title":["B\u00e9ta-thalassaemia, B12-vitamin-hi\u00e1ny \u00e9s t\u00e1rsul\u00f3 komplementmedi\u00e1lt hemol\u00edzis"],"prefix":"10.1556","volume":"164","author":[{"given":"\u00c1kos G\u00e9za","family":"Peth\u0151","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika Budapest, Kor\u00e1nyi S. u. 2\/a, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zs\u00f3fia Fl\u00f3ra","family":"Nagy","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika Budapest, Kor\u00e1nyi S. u. 2\/a, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zolt\u00e1n Andr\u00e1s","family":"Mezei","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Laborat\u00f3riumi Medicina Int\u00e9zet Debrecen Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istv\u00e1n","family":"Tak\u00e1cs","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika Budapest, Kor\u00e1nyi S. u. 2\/a, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Demeter","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika Budapest, Kor\u00e1nyi S. u. 2\/a, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","unstructured":"1 Muncie HL Jr., Campbell J. Alpha and beta thalassemia. Am Fam Physician 2009; 80: 339-344."},{"key":"ref1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1007\/s12185-018-2411-9","article-title":"Beta-thalassemia intermedia: a comprehensive overview and novel approaches","volume":"108","author":"2 Asadov","year":"2018","unstructured":"2 Asadov C, Alimirzoeva Z, Mammadova T, et al. Beta-thalassemia intermedia: a comprehensive overview and novel approaches. Int J Hematol. 2018; 108: 5-21.","journal-title":"Int J Hematol"},{"key":"ref2","unstructured":"3 Bojcsuk D. Beta-thalassemia mutational spectrum in Eastern Hungary. [Beta-thalassaemia mut\u00e1ci\u00f3s spektrum Kelet-Magyarorsz\u00e1gon.] Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Tudom\u00e1nyos Di\u00e1kk\u00f6ri Tan\u00e1cs, Debrecen, 2011. A 2011\/2012. \u00e9vi TDK-konferencia programf\u00fczete \u00e9s absztraktk\u00f6tete. [Hungarian]"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"4 Kurdi B, Mezei ZA, Kellner \u00c1, et al. Pernicious anemia in a thalassemic patient - difficulties of the diagnosis. [Thalassaemi\u00e1s betegen \u00e9szlelt anaemia perniciosa - a diagn\u00f3zis neh\u00e9zs\u00e9gei]. Orv Hetil. 2018; 159: 1368-1371. [Hungarian]","DOI":"10.1556\/650.2018.31097"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1111\/j.1751-553X.2011.01377.x","article-title":"Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary","volume":"34","author":"5 K\u00f3sa","year":"2012","unstructured":"5 K\u00f3sa Z, Nagy T, Nagy E, et al. Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary. Int J Lab Hematol. 2012; 34: 172-178.","journal-title":"Int J Lab Hematol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1046\/j.1365-2141.2003.04769.x","article-title":"Genetic insights into the clinical diversity of beta thalassaemia","volume":"124","author":"6 Thein","year":"2004","unstructured":"6 Thein SL. Genetic insights into the clinical diversity of beta thalassaemia. Br J Haematol. 2004; 124: 264-274.","journal-title":"Br J Haematol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/j.exphem.2004.11.007","article-title":"Control of globin gene expression during development and erythroid differentiation","volume":"33","author":"7 Stamatoyannopoulos","year":"2005","unstructured":"7 Stamatoyannopoulos G. Control of globin gene expression during development and erythroid differentiation. Exp Hematol. 2005; 33: 259-271.","journal-title":"Exp Hematol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1097\/GIM.0b013e3181cd68ed","article-title":"Beta-thalassemia","volume":"12","author":"Cao A","year":"2010","unstructured":"8 Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010; 12: 61-76.","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1056\/NEJMra2021838","article-title":"Beta-thalassemias","volume":"384","author":"9 Taher","year":"2021","unstructured":"9 Taher AT, Musallam KM, Cappellini MD. Beta-thalassemias. N Engl J Med. 2021; 384: 727-743.","journal-title":"N Engl J Med"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1007\/s12098-017-2325-1","article-title":"Thalassemia minor and major: current management","volume":"84","author":"10 Choudhry","year":"2017","unstructured":"10 Choudhry VP. Thalassemia minor and major: current management. Indian J Pediatr. 2017; 84: 607-611.","journal-title":"Indian J Pediatr"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ajh.10159","article-title":"Abrogation of macrocytosis in pernicious anemia by beta-thalassemia does not mask the diagnosis of vitamin B12 deficiency","volume":"71","author":"11 Das Gupta","year":"2002","unstructured":"11 Das Gupta A. Abrogation of macrocytosis in pernicious anemia by beta-thalassemia does not mask the diagnosis of vitamin B12 deficiency. Am J Hematol. 2002; 71: 61-62.","journal-title":"Am J Hematol"},{"key":"ref11","unstructured":"12 Diop MM, Toure PS, Leye MY, et al. Unusual aspect of pernicious anemia during association of beta-thalassemia: a new case report and literature review. [Maladie De Biermer De Presentation Inhabituelle Sur Un Profil Beta Thalassemique: Apport D'Un Nouveau Cas Et Revue De La Litterature.] Mali Med. 2012; 27: 71-72. [French]"},{"key":"ref12","unstructured":"13 HbVar: A database of human hemoglobin variants and thalassemias. Available from: https:\/\/globin.bx.psu.edu\/cgi-bin\/hbvar\/query_vars3?mode=output&display_format=page&i=845 [accessed: Dec 4, 2022]."},{"key":"ref13","unstructured":"14 National Library of Medicine. Reference SNP (rs) report. ALFA allele frequency. Available from: https:\/\/www.ncbi.nlm.nih.gov\/snp\/rs11549407#frequency_tab [accessed: Dec 4, 2022]."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.npep.2017.09.002","article-title":"The hemoglobin derived peptide LVV-hemorphin-7 evokes behavioral effects mediated by oxytocin receptors","volume":"66","author":"Cruz KR","year":"2017","unstructured":"15 da Cruz KR, Turones LC, Camargo-Silva G, et al. The hemoglobin derived peptide LVV-hemorphin-7 evokes behavioral effects mediated by oxytocin receptors. Neuropeptides 2017; 66: 59-68.","journal-title":"Neuropeptides"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"639","DOI":"10.7754\/Clin.Lab.2017.171138","article-title":"Thrombotic microangiopathy-like hemolysis in vitamin B12 deficiency-related macrocytic anemia","volume":"64","author":"16 Yamanishi","year":"2018","unstructured":"16 Yamanishi M, Koba S, Jo T, et al. Thrombotic microangiopathy-like hemolysis in vitamin B12 deficiency-related macrocytic anemia. Clin Lab. 2018; 64: 639-643.","journal-title":"Clin Lab"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1111\/j.1365-2141.1977.tb05751.x","article-title":"Reversible C3 hypocomplementaemia in megaloblastic anaemia due to vitamin B12 deficiency","volume":"36","author":"Horton MA","year":"1977","unstructured":"17 Horton MA, Burman JF. Reversible C3 hypocomplementaemia in megaloblastic anaemia due to vitamin B12 deficiency. Br J Haematol. 1977; 36: 23-27.","journal-title":"Br J Haematol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"102717","DOI":"10.1016\/j.transci.2019.102717","article-title":"Vitamin B12 deficiency and metabolism-mediated thrombotic microangiopathy (MM-TMA)","volume":"59","author":"18 Sabry","year":"2020","unstructured":"18 Sabry W, Elemary M, Burnouf T, et al. Vitamin B12 deficiency and metabolism-mediated thrombotic microangiopathy (MM-TMA). Transfus Apher Sci. 2020; 59: 102717.","journal-title":"Transfus Apher Sci"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.autrev.2018.08.011","article-title":"The changing face of chronic autoimmune atrophic gastritis: an updated comprehensive perspective","volume":"18","author":"19 Massironi","year":"2019","unstructured":"19 Massironi S, Zilli A, Elvevi A, et al. The changing face of chronic autoimmune atrophic gastritis: an updated comprehensive perspective. Autoimmun Rev. 2019; 18: 215-222.","journal-title":"Autoimmun Rev"},{"key":"ref19","doi-asserted-by":"publisher","unstructured":"20 ASGE Standards of Practice Committee; Sharaf RN, Shergill AK, Odze RD, et al. Endoscopic mucosal tissue sampling. Gastrointest Endosc. 2013; 78: 216-224. Erratum: Gastrointest Endosc. 2013; 78: 673.","DOI":"10.1016\/j.gie.2013.04.167"}],"container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/24\/article-p954.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/24\/article-p954.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/24\/article-p954.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T14:14:13Z","timestamp":1697811253000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/24\/article-p954.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,18]]},"references-count":20,"journal-issue":{"issue":"24"},"URL":"https:\/\/doi.org\/10.1556\/650.2023.32769","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,18]]}}}