Recommendations for Pregnancy in Rare Inherited Anemias

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.

Diamond-Blackfan Anemia: A Case Report and Review of the Literature

“…DBA poses a challenge for pregnancy and neonatal management. Patients with DBA are at increased risk for maternal and fetal complications, including worsening anemia, increased transfusion requirements, steroid resistance, FGR, fetal malformations (independent of fetal DBA status), preterm or cesarean delivery, miscarriage, and intrauterine fetal demise [15]. Parental diagnosis may be revealed if trio genetic testing is utilized, as in our case.…”

“…Inheritance risk and options for family planning (i.e., in vitro fertilization with preimplantation genetic testing, prenatal diagnostic testing, postnatal testing, donor gametes, embryo adoption, and adoption) should be discussed. Once pregnant, hemoglobin level should be monitored closely with transfusion if the mother becomes symptomatic, fetal distress occurs, or hemoglobin is <7 g/dL (70 g/L) [15, 16]. For the fetus at risk for anemia, serial ultrasound should be completed to evaluate middle cerebral artery peak systolic velocity and to assess for other signs of anemia, such as hepatosplenomegaly, cardiovascular compromise, or hydrops fetalis.…”

Thrombosis in Pregnant Women with Hemolytic Anemia

“…55 In agreement are thromboprophylaxis guidelines for thalassemia in pregnancy that have been recently published by the European Hematology Association (EHA). 56…”

“…Non–transfusion-dependent thalassemia: acetyl-salicylic acid 80–100 mg od during pregnancy in splenectomized patients unless LMWH is administered, LMWH peripartum. Sickle cell disease: acetyl-salicylic acid 80–100 mg od after 12th week, LMWH peripartum 56…”

“…As to antithrombotic management of pregnancy, guidelines suggest low-dose aspirin as prophylaxis to prevent preeclampsia, and consideration of antenatal LMWH administration when additional risk factors are present and during the postpartum period. 56 60…”