Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions.

Autor: van der Meij E; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Smiers FJW; Department of Pediatric Hematology, Leiden University Medical Center, Leiden, The Netherlands., Koopmann TT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., LePoole K; Sanquin Blood Bank, Unit Transfusion Medicine, Amsterdam, The Netherlands., Lopriore E; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands., Middeldorp JM; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Ootjers CS; Department of Hematology, Division Transfusion Medicine, Leiden University Medical Center, Leiden, The Netherlands., Scharnhorst V; Department of Biomedical Engineering, Catharina Hospital, Clinical Laboratory and Technical University Eindhoven, Eindhoven, The Netherlands., Scheepers HCJ; GROW, Departement of Obstetrics and Gynaecology, School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, The Netherlands., Harteveld CL; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Verweij EJTJ; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 Nov 02. Date of Electronic Publication: 2024 Nov 02.
DOI: 10.1002/pd.6695
Abstrakt: Aim: In this article, we present two cases of severe fetal hemolytic anemia based on a beta-thalassaemia trait inherited from a single parent.
Results: These cases, presented at 20 and 28 weeks' gestation, necessitated intra-uterine blood transfusions. This occurrence is remarkable because it challenges the common assumption that beta-thalassaemia typically has no prenatal implications regarding fetal anemia. Both fetuses inherited a rare heterozygous mutation from their mother, resulting in gamma-thalassaemia-related anemia. In the first case, the anemia was related to a deletion in the beta locus control region (βLCR) 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.
Conclusion: Clinicians should be vigilant regarding these rare mutations in families with a history of beta-thalassaemia as the fetal clinical consequences can be severe and intra-uterine blood transfusions may prove life-saving for these fetuses.
(© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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