Thalassemia and infertility

Beta-thalassemia (BTM) major is the most common haemoglobin disorder in the world, with high prevalence in people of Mediterranean, Arab or Asian origin. It has been estimated that about 1.5% of the global population (80-90 million people) are carriers of BTM. In patients with BTM, long-term transfusion therapy for the correction of anaemia leads to toxic iron overload, resulting in significant morbidity including liver damage, cardiac complications and endocrine dysfunction. The commonest abnormality is hypogonadotropic hypogonadism, which presents with primary amenorrhoea, delayed puberty or secondary amenorrhoea with consequent infertility. Nevertheless, current improvements in the management of thalassemia disorders offer patients the possibility of having a regularly functioning reproductive system and increased chances of achieving a pregnancy. The aim of the present review is to analyse all aspects of fertility management in BTM women, by examining the main causes of infertility, in order to give practical tools to ensure a complete diagnostic work-up and discuss intervention options to guarantee maximum reproductive health.