Thalassaemia in pregnancy: Contemporary care for a timeless disease

Abstract

Globally, thalassaemia is one of the most common genetic blood disorders affecting women's ability to conceive and progress through a normal pregnancy and birth. Thalassaemia is associated with late-onset puberty, infertility due to endocrine dysfunction, growth retardation, jaundice, deformities in skeletal development and enlargement of the abdomen secondary to spleen and liver anomalies. Despite medical innovations, the management of thalassaemia remains associated with significant risk factors for women during pregnancy, birth and the postnatal period. The management of women with thalassaemia is complex, requiring a multidisciplinary approach to care as the potential for maternal and fetal complications presents risks during pregnancy and birth. Women can remain silent carriers of the disease until pregnancy induces symptomatic haematological and coagulation changes, leading to diagnosis of thalassaemia.