Taher Ali T, Iolascon Achille, Matar Charbel F, Bou-Fakhredin Rayan, de Franceschi Lucia, Cappellini Maria Domenica, Barcellini Wilma, Russo Roberta, Andolfo Immacolata, Tyan Paul, Gulbis Beatrice, Aydinok Yesim, Anagnou Nicholas P, Bencaiova Gabriela Amstad, Tamary Hannah, Martinez Patricia Aguilar, Forni Gianluca, Vindigni Raffaele
Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples, Italy.
Hemasphere. 2020 Aug 12;4(4):e446. doi: 10.1097/HS9.0000000000000446. eCollection 2020 Aug.
Rare inherited anemias are a subset of anemias caused by a genetic defect along one of the several stages of erythropoiesis or in different cellular components that affect red blood cell integrity, and thus its lifespan. Due to their low prevalence, several complications on growth and development, and multi-organ system damage are not yet well defined. Moreover, during the last decade there has been a lack of proper understanding of the impact of rare anemias on maternal and fetal outcomes. In addition, there are no clear-cut guidelines outlining the pathophysiological trends and management options unique to this special population. Here, we present on behalf of the European Hematology Association, evidence- and consensus-based guidelines, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare inherited anemias, including Diamond-Blackfan Anemia, Congenital Dyserythropoietic Anemias, Thalassemia, Sickle Cell Disease, Enzyme deficiency and Red cell membrane disorders.
罕见遗传性贫血是贫血的一个子集，由红细胞生成的几个阶段之一或影响红细胞完整性及其寿命的不同细胞成分中的遗传缺陷引起。由于其患病率低，关于生长发育的几种并发症以及多器官系统损害尚未得到明确界定。此外，在过去十年中，人们对罕见贫血对母婴结局的影响缺乏正确的认识。此外，没有明确的指南概述这一特殊人群特有的病理生理趋势和管理选择。在此，我们代表欧洲血液学协会，展示由包括血液学家、妇科医生、全科医生、医学遗传学家以及来自欧洲各国的罕见遗传性贫血专家等不同领域的国际专家小组制定的基于证据和共识的指南，用于为罕见遗传性贫血（包括先天性纯红细胞再生障碍性贫血、先天性红细胞生成异常性贫血、地中海贫血、镰状细胞病、酶缺乏症和红细胞膜疾病）的妊娠管理标准化和适当选择治疗干预措施。
