Abstract：
β-Thalassemia is a disease traditionally associated with thalassemia belt countries. Nonetheless, as global migration intensifies, β-thalassemia-causing variants spread far from their origin. We investigated this process to detect some patterns underlying its course. We analyzed β-thalassemia-causing variants and the origin of 676 unrelated participants in Moscow, the largest city of Russia, far away from the thalassemia belt. Our analyses revealed that modern Russia has one of the broadest spectra of thalassemia-causing variants: 46 different variants, including two novel β0 variants. Only a small proportion of the reported pathogenic variants likely originated in the resident subpopulation. Almost half of the variants that supposedly had emerged outside the Russian borders have already been assimilated by (were found in) the resident subpopulation. The primary modern source of immigration transferring thalassemia to a nonthalassemic part of Russia is the Caucasus region. We also found traces of ancient migration flows from non-Caucasus countries. Our data indicate that β-thalassemia-causing variants are actively spilling over into resident populations of countries outside thalassemia belt regions. Therefore, viewing thalassemia as a disease exclusive to specific ethnic groups creates a mind trap that can complicate the diagnosis.
摘要：
β-地中海贫血是一种传统上与地中海贫血带国家相关的疾病。尽管如此，随着全球移民的加剧，引起β-地中海贫血的变体远离其起源。我们调查了这个过程，以检测其过程背后的一些模式。我们分析了引起β-地中海贫血的变异以及莫斯科676名无关参与者的起源，俄罗斯最大的城市,远离地中海贫血带。我们的分析显示，现代俄罗斯拥有引起地中海贫血的最广泛的变体之一：46种不同的变体，包括两个新的β0变体。报告的致病变异中只有一小部分可能起源于居民亚群。据称在俄罗斯边界以外出现的变体中，几乎有一半已经被居民亚种群同化（在其中发现）。将地中海贫血转移到俄罗斯非地中海贫血地区的主要现代移民来源是高加索地区。我们还发现了来自非高加索国家的古代移民流动的痕迹。我们的数据表明，引起β-地中海贫血的变异体正在积极蔓延到地中海贫血带地区以外国家的常住人口中。因此,将地中海贫血视为特定种族独有的疾病，会造成一种思维陷阱，使诊断复杂化。
