{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T10:12:19Z","timestamp":1776852739401,"version":"3.51.2"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,11,2]],"date-time":"2024-11-02T00:00:00Z","timestamp":1730505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>In this article, we present two cases of severe fetal hemolytic anemia based on a beta\u2010thalassaemia trait inherited from a single parent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>These cases, presented at 20 and 28\u00a0weeks' gestation, necessitated intra\u2010uterine blood transfusions. This occurrence is remarkable because it challenges the common assumption that beta\u2010thalassaemia typically has no prenatal implications regarding fetal anemia. Both fetuses inherited a rare heterozygous mutation from their mother, resulting in gamma\u2010thalassaemia\u2010related anemia. In the first case, the anemia was related to a deletion in the beta locus control region (\u03b2LCR) and in the second case, a deletion on chromosome 11p15.4 was the cause. These mutations not only affect the beta chain production, but also the gamma chain production, leading to a reduction in the synthesis of HbF, ineffective erythropoiesis and consequently, perinatal hemolytic anemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Clinicians should be vigilant regarding these rare mutations in families with a history of beta\u2010thalassaemia as the fetal clinical consequences can be severe and intra\u2010uterine blood transfusions may prove life\u2010saving for these fetuses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6695","type":"journal-article","created":{"date-parts":[[2024,11,3]],"date-time":"2024-11-03T04:22:57Z","timestamp":1730607777000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Heterozygous Beta\u2010Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4905-1867","authenticated-orcid":false,"given":"Eva","family":"van der Meij","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Division of Fetal Therapy Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans J. W.","family":"Smiers","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara T.","family":"Koopmann","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics\/LDGA Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Krapels","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaatje","family":"LePoole","sequence":"additional","affiliation":[{"name":"Sanquin Blood Bank Unit Transfusion Medicine  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Lopriore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna M.","family":"Middeldorp","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Division of Fetal Therapy Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia S.","family":"Ootjers","sequence":"additional","affiliation":[{"name":"Department of Hematology Division Transfusion Medicine Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volkher","family":"Scharnhorst","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering Catharina Hospital Clinical Laboratory and Technical University Eindhoven  Eindhoven The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubertina C. J.","family":"Scheepers","sequence":"additional","affiliation":[{"name":"GROW Departement of Obstetrics and Gynaecology School for Oncology and Reproduction Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelis L.","family":"Harteveld","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics\/LDGA Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9343-9957","authenticated-orcid":false,"given":"E. J. T. (Joanne)","family":"Verweij","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Division of Fetal Therapy Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1179\/1607845414y.0000000203"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejm199907083410207"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e3181cd68ed"},{"key":"e_1_2_11_5_1","first-page":"3417","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Weatherall D. J. C. 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