Songdej Duantida, Babbs Christian, Higgs Douglas R
Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; and.
Division of Hematology/Oncology, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Blood. 2017 Mar 9;129(10):1251-1259. doi: 10.1182/blood-2016-08-697110. Epub 2017 Jan 5.
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 We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished.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.
由α地中海贫血导致的血红蛋白（Hb）巴特胎儿水肿综合征（BHFS）被认为是一种普遍致命的疾病。然而，在过去30年里，宫内干预和围产期重症监护的改善使得BHFS幸存者的数量不断增加。我们启动了一个国际登记处，收集了69例患者的信息，其中31例此前未发表。从这个角度出发，我们分析现有的临床信息，以记录BHFS的自然病史。未来，一旦积累了足够的病例，我们旨在在此研究基础上，提供信息以便为有风险的夫妇提供咨询。迄今为止，39例患者已存活至5岁以上，其中18例现已超过10岁。根据现有病例，我们发现有证据表明宫内治疗在围产期和新生儿期有好处；然而，它可能不会为长期生长和神经发育结果带来额外益处。生长发育迟缓是BHFS患者的主要长期不良后果，约40%的患者体重受到严重影响，约50%的患者身高受到严重影响。神经发育延迟的风险也有所增加，因为我们发现20%（11/55）的BHFS幸存者存在≥6个月的严重延迟。登记处的大多数患者需要终身输血，并且常常伴有先天性异常和合并症。这一观点是收集信息的第一步，以便就受影响婴儿的预测结果提供明智的咨询。
