Centro della Microcitemia, Anemie Congenite e Dismetabolismo del Ferro, European Reference Networks for rare diseases ERN-EuroBloodNet, Ospedale Galliera, Mura Delle Cappuccine 14, 16128 Genoa, Italy.
Department of Endocrinology, Sant'Andrea Hospital, via di Grottarossa 1035-1039, 00189 Rome, Italy.
Blood Rev. 2019 Nov;38:100594. doi: 10.1016/j.blre.2019.100594. Epub 2019 Aug 7.
Thalassemia is among the most common monogenic diseases worldwide. Stem cell transplantation can be curative but is reserved for young patients, as probably gene therapy will be in the future. Adult thalassemia patients are treated with transfusion therapy and iron chelation, and improvements in the safety of transfusion protocols, use of iron chelation, monitoring of iron overload, and management of comorbidities have substantially prolonged survival, increasing the proportion of adult patients in the thalassemic population. However, older patients are more likely to develop multiple disease-related morbidities, including osteoporosis, endocrine disorders, liver disease, renal dysfunction, and cancer. Thus, the main objective of this article is to describe new challenges posed by the increasing life expectancy of patients with thalassemia, focusing on data from Italy where there is a well-documented history of thalassemia management. It is hoped that the mortality and morbidity benefits already seen in patients with thalassemia will continue to improve with ongoing advances in the quality of treatment.
地中海贫血是全球最常见的单基因疾病之一。干细胞移植可以治愈该病,但仅限于年轻患者,因为未来可能会采用基因疗法。成年地中海贫血患者接受输血治疗和铁螯合治疗,并且输血方案的安全性、铁螯合的使用、铁过载的监测以及合并症的管理得到了改善,这大大延长了患者的生存时间,使地中海贫血患者中的成年患者比例增加。然而,老年患者更容易出现多种与疾病相关的并发症,包括骨质疏松症、内分泌紊乱、肝病、肾功能不全和癌症。因此,本文的主要目的是描述地中海贫血患者预期寿命延长带来的新挑战,重点介绍意大利的数据,因为意大利在地中海贫血管理方面有着有据可查的历史。随着治疗质量的不断提高,希望地中海贫血患者的死亡率和发病率能够继续得到改善。