Kattamis Antonis, Forni Gian Luca, Aydinok Yesim, Viprakasit Vip
First Department of Pediatrics, National and Kapodistrian University of Athens, Athens, Greece.
Centro della Microcitemia e Anemie Congenite e del Dismetabolismo del Ferro, Ospedale Galliera, Genoa, Italy.
Eur J Haematol. 2020 Dec;105(6):692-703. doi: 10.1111/ejh.13512. Epub 2020 Sep 21.
β-thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload. Traditionally, β-thalassemia has been more common in certain regions of the world such as the Mediterranean, Middle East, and Southeast Asia. However, the prevalence of β-thalassemia is increasing in other regions, including Northern Europe and North America, primarily due to migration. This review summarizes the available data on the changing incidence and prevalence of β-thalassemia as well as factors influencing disease frequency. The data suggest that the epidemiology of β-thalassemia is changing: Migration has increased the prevalence of the disease in regions traditionally believed to have a low prevalence, while, at the same time, prevention and screening programs in endemic regions have reduced the number of affected individuals. Various approaches to prevention and screening have been used. Region-specific prevention and treatment programs, customized to align with local healthcare resources and cultural values, have been effective in identifying patients and carriers and providing information and care. Significant challenges remain in universally implementing these programs.
重型β地中海贫血是一种遗传性血红蛋白病，需要终身进行红细胞输血和铁螯合治疗，以预防铁过载引起的并发症。传统上，β地中海贫血在世界某些地区更为常见，如地中海地区、中东和东南亚。然而，包括北欧和北美在内的其他地区，β地中海贫血的患病率正在上升，主要原因是移民。本综述总结了关于β地中海贫血发病率和患病率变化的现有数据，以及影响疾病频率的因素。数据表明，β地中海贫血的流行病学正在发生变化：移民增加了传统上认为患病率较低地区的疾病患病率，与此同时，流行地区的预防和筛查项目减少了受影响个体的数量。已经采用了各种预防和筛查方法。根据当地医疗资源和文化价值观定制的针对特定地区的预防和治疗项目，在识别患者和携带者以及提供信息和护理方面取得了成效。在普遍实施这些项目方面仍然存在重大挑战。
