Pregnancy and beta-thalassemia: an Italian multicenter experience.
Origa Raffaella,Piga Antonio,Quarta Giovanni,Forni Gian Luca,Longo Filomena,Melpignano Angela,Galanello Renzo
BACKGROUND:Recent advances in the management of thalassemia have significantly improved life expectancy and quality of life of patients with this hemoglobinopathy, with a consequent increase in their reproductive potential and desire to have children. DESIGN AND METHODS:We describe the methods of conception and delivery, as well as the course and outcome of pregnancy including transfusions, iron overload and chelation in 46 women with thalassemia major (58 pregnancies) and in 11 women with thalassemia intermedia (17 pregnancies). Conception was achieved after gonadotrophin-induced ovulation in 33 of the women with thalassemia major and spontaneously in all of those with thalassemia intermedia. RESULTS:Among the women with thalassemia major, 91% of the pregnancies resulted in successful delivery of 45 singleton live-born neonates, five sets of twins and one set of triplets. No secondary complications of iron overload developed or worsened during pregnancy. When considering only the singleton pregnancies, the proportion of babies with intrauterine growth retardation did not differ from that reported in the general Italian population. The high prevalence of pre-term births (32.7%) was mostly related to multiple pregnancies and precautionary reasons. Pregnancy was safe in most women with thalassemia major or intermedia. However, women with thalassemia intermedia who had never previously been transfused or who had received only minimal transfusion therapy were at risk of severe alloimmune anemia if blood transfusions were required during pregnancy. CONCLUSIONS:Provided that a multidisciplinary team is available, pregnancy is possible, safe and usually has a favorable outcome in patients with thalassemia. In women with hypogonadotropic hypogonadism, gonadal function is usually intact and fertility is usually retrievable.
Thalassaemia in pregnancy.
Leung Tak Yeung,Lao Terence T
Best practice & research. Clinical obstetrics & gynaecology
Thalassaemia is the most common monogenetic disease worldwide. Antenatal screening is effective and simple, and accurate genetic prenatal diagnosis can be achieved in early gestation. Less invasive methods are feasible with ultrasound fetal assessment for alpha-thalassaemia, analysis of circulating fetal nucleic acid in maternal plasma, and pre-implantation genetic diagnosis. Women with thalassaemia major and intermedia are at risk of various maternal complications, such as cardiac failure, alloimmunisation, viral infection, thrombosis, endocrine and bone disturbances. Therefore, it is prudent to adhere to a standard management plan in this group of pregnant women. Close monitoring of the maternal and fetal condition during pregnancy is essential, and various treatments, such as blood transfusion or postpartum prophylaxis for thromboembolism, may be indicated. After birth, resumption of iron chelation and bisphosphonates treatment is needed, and counselling on breast feeding and contraception should be given.
Obstetric care for women with thalassemia.
Lao Terence T
Best practice & research. Clinical obstetrics & gynaecology
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously uncommon in patients with homozygous β-thalassemia, is encountered increasingly because of improved management and assisted reproduction technology; however, preconceptional problems that include anemia, iron overload, cardiac dysfunction, thromboembolism, alloimmunization, infections, and endocrine and bone disorders, could influence maternal and obstetric outcome. Although, successful pregnancy in thalassemia trait carriers and women with hemoglobin H disease is more common, there is still increased risk of obstetric and perinatal complications. Prenatal diagnosis to exclude fetal homozygous thalassemia and other congenital anomalies, together with close monitoring of the pregnancy, would optimize outcome. Further research is warranted to elucidate the fetal safety of iron chelation therapy and potential effect of pregnancy on long-term maternal health outcome, especially following occurrence of maternal complications.
Clinical monitoring and management of complications related to chelation therapy in patients with β-thalassemia.
Saliba Antoine N,El Rassi Fuad,Taher Ali T
Expert review of hematology
Iron chelating agents - deferoxamine (DFO), deferiprone (DFP), and deferasirox (DFX) - are used to treat chronic iron overload in patients with β-thalassemia in an attempt to reduce morbidity and mortality related to siderosis. Each of the approved iron chelating agents has its own advantages over the others and also has its own risks, whether related to over-chelation or not. In this review, we briefly discuss the methods to monitor the efficacy of iron chelation therapy (ICT) and the evidence behind the use of each iron chelating agent. We also portray the risks and complications associated with each iron chelating agent and recommend strategies to manage adverse events.
Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia.
Carlberg Katie T,Singer Sylvia T,Vichinsky Elliott P
Hematology/oncology clinics of North America
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation. Topics that require further study include management that allows fertility preservation, improved non-invasive prenatal diagnosis methods for affected fetuses, the use of chelation therapy during pregnancy, and indications for and duration of anticoagulation.