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

2026-05-29Artigo de investigação Acesso aberto
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dc.contributor.authorMontalembert, Mariane de
dc.contributor.authorCappellini, Maria D.
dc.contributor.authorIolascon, Achille
dc.contributor.authorFranceschi, Lucia de
dc.contributor.authorÖmur, Eda
dc.contributor.authorSaad, Michele Abi
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.date.accessioned2026-06-11T15:59:29Z
dc.date.available2026-06-11T15:59:29Z
dc.date.issued2026-05-29
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.eng
dc.identifier.doi10.1002/hem3.70381
dc.identifier.eid105040519056
dc.identifier.other95825559-68b9-46a2-91a3-39e87ac8ca73
dc.identifier.pmcPMC13240542
dc.identifier.pmid42255946
dc.identifier.urihttp://hdl.handle.net/10400.14/58084
dc.identifier.wos001778031200001
dc.language.isoeng
dc.peerreviewedyes
dc.publisherJohn Wiley and Sons Inc.
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleEHA recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies
dc.typeresearch article
dspace.entity.typePublication
oaire.citation.issue6
oaire.citation.volume10
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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