HemaSphere (Aug 2020)

Recommendations for Pregnancy in Rare Inherited Anemias

  • Ali T. Taher,
  • Achille Iolascon,
  • Charbel F. Matar,
  • Rayan Bou-Fakhredin,
  • Lucia de Franceschi,
  • Maria Domenica Cappellini,
  • Wilma Barcellini,
  • Roberta Russo,
  • Immacolata Andolfo,
  • Paul Tyan,
  • Beatrice Gulbis,
  • Yesim Aydinok,
  • Nicholas P. Anagnou,
  • Gabriela Amstad Bencaiova,
  • Hannah Tamary,
  • Patricia Aguilar Martinez,
  • Gianluca Forni,
  • Raffaele Vindigni,
  • on behalf of the EHA Scientific Working Group on “Red Cells, Iron”

DOI
https://doi.org/10.1097/HS9.0000000000000446
Journal volume & issue
Vol. 4, no. 4
p. e446

Abstract

Read online

Abstract. 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.