Publication: An international registry of survivors with Hb Bart's hydrops fetalis syndrome
Issued Date
2017-03-09
Resource Type
ISSN
15280020
00064971
00064971
Other identifier(s)
2-s2.0-85015676955
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Blood. Vol.129, No.10 (2017), 1251-1259
Suggested Citation
Duantida Songdej, Christian Babbs, Douglas R. Higgs An international registry of survivors with Hb Bart's hydrops fetalis syndrome. Blood. Vol.129, No.10 (2017), 1251-1259. doi:10.1182/blood-2016-08-697110 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/41929
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
An international registry of survivors with Hb Bart's hydrops fetalis syndrome
Author(s)
Other Contributor(s)
Abstract
© 2017 by The American Society of Hematology. Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α-thalassemia is considered a universally fatal disorder. However, over the last 3 decades, improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective, we analyze the available clinical information to document the natural history of BHFS. In the future, once we have accrued sufficient cases, we aim to build on this study and provide information to allow counseling of at-risk couples. To date, 39 patients have survived beyond the age of 5 years, 18 of whom are now older than 10 years.Based on the available cases, we find evidence to suggest that intrauterine therapy provides benefits during the perinatal and neonatal period; however, it may not provide additional benefits to long-term growth and neurodevelopmental outcomes. Growth retardation is a major adverse long-term outcome among BHFS patients with ∼40% being severely affected in terms of weight and ∼50% in terms of height. There is also an increased risk of neurodevelopmental delay as we find 20% (11/55) of BHFS survivors suffer from a serious delay of ≥6 months. Most patients in the registry require lifelong transfusion and often have associated congenital abnormalities and comorbidities. This perspective is a first step in gathering information to allow provision of informed counseling on the predicted outcomes of affected babies.