RESUMEN
ß-Thalassemia is a disease traditionally associated with thalassemia belt countries. Nonetheless, as global migration intensifies, ß-thalassemia-causing variants spread far from their origin. We investigated this process to detect some patterns underlying its course. We analyzed ß-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 ß0 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 ß-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.
RESUMEN
BACKGROUND: Iran is one of the countries located on the "thalassemia belt" and a thalassemia prevention program was approved in our country in 1995. Many different researchers have studied the success of this program with no unanimous findings. MATERIAL AND METHODS: A comprehensive literature search was performed using PubMed, Web of Science, and Google Scholar databases in Farsi and English languages for relevant articles published up to March 2015. RESULTS: A total of 46 articles regarding thalassemia prevention were identified. After screening the titles and abstracts, 27 articles were excluded because they were the same articles, review articles, and case reports. Finally, 16 articles about the success of the Iranian thalassemia prevention program were selected for the evaluation. CONCLUSION: The findings show that the program has been significantly successful in the reduction of the new thalassemia births, though not in a few provinces like Sistan and Baluchestan. The role of the network of genetic labs has been also indispensable in the reduction of the new births. However, there is ambiguity over the impact of the program on the attitude and awareness of people across the country about the prevention of inherited diseases. However, with the success of the Iran thalassemia prevention program, it needs to be modified to be more compatible with the relevant social textures of different provinces.