{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:07:06Z","timestamp":1760123226198,"version":"3.40.4"},"reference-count":32,"publisher":"Ordem dos Medicos","issue":"2","license":[{"start":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T00:00:00Z","timestamp":1663891200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introdu\u00e7\u00e3o: A defici\u00eancia de glicose-6-fosfato desidrogenase (G6PD) \u00e9 o defeito enzim\u00e1tico mais comum no mundo, afetando mais de 500 milh\u00f5es de pessoas. Em Portugal, a frequ\u00eancia populacional da defici\u00eancia de G6PD no sexo masculino foi estimada em cerca de 0,5%, e desde o ano 2000 t\u00eam vindo a ser descritas diversas variantes G6PD causadoras da defici\u00eancia. O principal objetivo deste estudo foi melhorar o conhecimento sobre a heterogeneidade molecular da defici\u00eancia de G6PD na popula\u00e7\u00e3o portuguesa.Material e M\u00e9todos: An\u00e1lise retrospetiva do perfil mutacional de 138 indiv\u00edduos n\u00e3o-aparentados de naturalidade portuguesa (101 homens e 37 mulheres), sem ascend\u00eancia subsaariana conhecida, diagnosticados com defici\u00eancia de G6PD entre 1994 e 2020 na Unidade de Hematologia Molecular do Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC). O estudo molecular foi feito por sequencia\u00e7\u00e3o direta de Sanger ou an\u00e1lise por PCR-RFLP.Resultados: Identificaram-se 21 muta\u00e7\u00f5es patog\u00e9nicas diferentes. Destas, 20 s\u00e3o muta\u00e7\u00f5es missense, que levam \u00e0 troca de amino\u00e1cido, e uma \u00e9 uma dele\u00e7\u00e3o in-frame de 18 nucle\u00f3tidos no ex\u00e3o 10. As tr\u00eas muta\u00e7\u00f5es mais frequentes pertencem ao hapl\u00f3tipo subsaariano G6PD c.376A&gt;G, nomeadamente as variantes G6PD: A- (c.202G&gt;A; p.68Val&gt;Met) (58,6%), Betica (c.968T&gt;C; p.323Leu&gt;Pro) (12,1%) e Santamaria (c.542A&gt;T; p.181Asp&gt;Val) (4,3%).Conclus\u00e3o: Existe uma elevada heterogeneidade molecular da defici\u00eancia de G6PD em Portugal.<\/jats:p>","DOI":"10.20344\/amp.17584","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T21:11:15Z","timestamp":1663967475000},"page":"81-87","source":"Crossref","is-referenced-by-count":2,"title":["Heterogeneidade Molecular da Defici\u00eancia em Glicose-6-Fosfato Desidrogenase (G6PD) na Popula\u00e7\u00e3o Portuguesa"],"prefix":"10.20344","volume":"36","author":[{"given":"Lic\u00ednio","family":"Manco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celeste","family":"Bento","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds","family":"Relvas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tabita","family":"Maia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Let\u00edcia","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8464","published-online":{"date-parts":[[2022,9,23]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Luzzatto L, Ally M, Notaro R. 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