ICMR-National Institute of Research in Tribal Health, Jabalpur, M.P, India.
Model Rural Health Research Unit (MRHRU) Jheet, Durg, Chhattisgarh, India.
Gene. 2024 Feb 20;896:148022. doi: 10.1016/j.gene.2023.148022. Epub 2023 Nov 23.
One excellent illustration of how a single gene abnormality may result in a spectrum of disease incidence is the incredible phenotypic variety of β-thalassemia, which spans from severe anemia and transfusion needs to an utterly asymptomatic sickness. However, genetic causes of β-thalassemia and how the anemia's severity might be altered at various stages in its pathophysiology have been well investigated. There are currently known to be more than 350 mutations that cause genetic disease. However only 20 β thalassemia mutations account for more than 80% of the β thalassemia mutation across the globe due to phenomenon of geographical clustering where each population has a few common mutations together with a varying number of rare ones. Due to migration of the population, the spectrum of thalassemia mutation in changing from time to time. In this review, efforts are made to collate β globin gene mutations in different countries and populations.
一个单一基因异常如何导致疾病发病率谱的极好例子是β-地中海贫血的惊人表型多样性，它从严重贫血和输血需求到完全无症状的疾病。然而，β-地中海贫血的遗传原因以及贫血在其病理生理学的各个阶段的严重程度如何改变已经得到了很好的研究。目前已知有 350 多种突变会导致遗传性疾病。然而，由于地理聚集现象，只有 20 种β地中海贫血突变占全球超过 80%的β地中海贫血突变，因为每个人群都有一些常见的突变，还有一些罕见的突变。由于人口迁移，地中海贫血突变的范围在不断变化。在这篇综述中，我们努力整理不同国家和人群的β珠蛋白基因突变。
