Thalassaemia in pregnancy

Abstract

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.