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EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

2026-06Artigo científico Acesso aberto
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dc.contributor.authorde Montalembert, Mariane
dc.contributor.authorCappellini, Maria D.
dc.contributor.authorIolascon, Achille
dc.contributor.authorde Franceschi, Lucia
dc.contributor.authorÖmur, Eda
dc.contributor.authorAbi Saad, Michele
dc.contributor.authorAndolfo, Immacolata
dc.contributor.authorBento, Celeste
dc.contributor.authorBerghs, Maria
dc.contributor.authorBonnet, Doris
dc.contributor.authorGlenthoj, Andreas
dc.contributor.authorGulbis, Beatrice
dc.contributor.authorDolai, Tuphan K.
dc.contributor.authorLima, Jorge
dc.contributor.authorMotta, Irene
dc.contributor.authorRusso, Roberta
dc.contributor.authorTaher, Ali
dc.contributor.authorTshilolo, Leon
dc.contributor.authorAlmeida, Antonio
dc.contributor.authorRees, David
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.institutionComprehensive Health Research Centre (CHRC) - pólo NMS
dc.contributor.pblJohn Wiley and Sons Inc.
dc.date.accessioned2026-06-22T14:16:02Z
dc.date.available2026-06-22T14:16:02Z
dc.date.issued2026-06
dc.descriptionPublisher Copyright: © 2026 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.
dc.description.abstractThalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence. Both diseases are autosomal recessive in their transmission, with carriers generally being asymptomatic. Informing carriers of thalassemia or SCD about reproductive risks and choices, while taking into account cultural and religious considerations, is a priority within global strategies to improve outcomes for these diseases. The European Hematology Association (EHA)'s Topic In Focus (TIF) Hemoglobinopathies Group created a focus group of hematologists, patients, anthropologists, and an obstetrician from Europe, the Middle East, India, and Africa. The Group considered that preconceptual screening tests would correspond to tests conducted before pregnancy (screening for carriers before marriage/conception), antenatal screening referred to tests completed on pregnant women, and prenatal diagnosis referred to tests performed on the fetus. It proposed guidelines addressing optimal timing of screening, appropriate laboratory tests, and communication strategies, taking into account the great diversity of regions and cultures where thalassemia and SCD are present. A main discussion point was that no recommendations would be given for couples about reproductive decisions, and that the aim was to present the existing and available options in different countries. Eight questions were examined using available literature, leading to the formulation of seven recommendations, which were submitted to a vote using the Delphi method. Consensus agreement was obtained for all recommendations.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent702132
dc.identifier.doi10.1002/hem3.70381
dc.identifier.issn2572-9241
dc.identifier.otherPURE: 164688020
dc.identifier.otherPURE UUID: ab20de4f-ddd4-4113-971d-587d688656cc
dc.identifier.otherScopus: 105040519056
dc.identifier.urihttp://hdl.handle.net/10362/203999
dc.identifier.urlhttps://www.scopus.com/pages/publications/105040519056
dc.language.isoeng
dc.peerreviewedyes
dc.subjectHematology
dc.titleEHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathiesen
dc.typejournal article
degois.publication.issue6
degois.publication.titleHemaSphere
degois.publication.volume10
dspace.entity.typePublication
rcaap.rightsopenAccess

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