Search

Iron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very efficiently, losing less than 0.1% of their body iron content each day, an amount that is replaced through dietary iron absorption. Most of the iron is in the hemoglobin (Hb) of red blood cells (RBCs); thus, blood loss is the most common cause of acute iron depletion and anemia worldwide, and reduced hemoglobin synthesis and anemia are the most common consequences of low plasma iron concentrations. The term iron deficiency (ID) refers to the reduction of total body iron stores due to impaired nutrition, reduced absorption secondary to gastrointestinal conditions, increased blood loss, and increased needs as in pregnancy. Iron deficiency anemia (IDA) is defined as low Hb or hematocrit associated with microcytic and hypochromic erythrocytes and low RBC count due to iron deficiency. IDA most commonly affects women of reproductive age, the developing fetus, children, patients with chronic and inflammatory diseases, and the elderly. IDA is the most frequent hematological disorder in children, with an incidence in industrialized countries of 20.1% between 0 and 4 years of age and 5.9% between 5 and 14 years (39% and 48.1% in developing countries). The diagnosis, management, and treatment of patients with ID and IDA change depending on age and gender and during pregnancy. We herein summarize what is known about the diagnosis, treatment, and prevention of ID and IDA and formulate a specific set of recommendations on this topic., Competing Interests: Patricia Aguilar Martinez: Nothing to Disclose. Dorine Swinkels: Nothing to Disclose. Sule Unal: Nothing to Disclose. Fabiana Busti: Nothing to Disclose. Myka Sanchez: Co‐Founder of SME BLOODGENETICS SL (a genetic company www.bloodgenetics.com); Participation in 2 clinical trials one for IRIDA (KEROS THERAPEUTICS), one for atransferrinemia (SanquinBlood Netherland). Achille Iolascon: Nothing to Disclose. Ali Taher—Outside Work: Novartis Pharmaceuticals: Consultancy, Research funding; Bristol‐Myers Squibb (Celgene): Consultancy, Research funding; Ionis Pharmaceuticals: Consultancy, Research Funding; Vifor: Consultancy, Research Funding; Agios: Consultancy. Rayan Bou Fakhredin: Nothing to Disclose. Graça Porto: Nothing to Disclose. Immacolata Andolfo: Nothing to Disclose. Roberta Russo: Nothing to Disclose. Martina Muckenthaler Silence Therapeutics PLC, Editorial Board/Blood Journal/HemaSphere. Malcolm. G. Munro: Consultancies Pharmacosmos, Vifor, Daichi‐Sankyo, Shield Therapeutics, Myovant, Abbvie; Immediate Past Chair, FIGO Menstrual Disorders Committee. Tomas Ganz: shareholder and scientific advisor of Intrinsic LifeSciences, and consultant for Ionis Pharmaceuticals, Disc Medicine, Silence Therapeutics, Chugai, Vifor, Akebia, Dexcel, and Avidity Bio., (© 2024 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.)

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., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.)