Basak A Nazli, Tuzmen Sukru
Translational Genomics Research Institute, Phoenix, AZ, USA.
Methods Mol Biol. 2011;700:291-307. doi: 10.1007/978-1-61737-954-3_19.
The thalassemia syndromes are a diverse group of inherited disorders that can be characterized according to their insufficient synthesis or absent production of one or more of the globin chains. They are classified in to α, β, γ, δβ, δ, and εγδβ thalassemias depending on the globin chain(s) affected. The β-thalassemias refer to that group of inherited hemoglobin disorders, which are characterized by a reduced synthesis (β(+)-thalassemia) or absence (β(0)-thalassemia) of beta globin (β-globin) chain production (1). Though known as single-gene disorders, hemoglobinopathies such as β-thalassemia and sickle cell anemia are far from being fully resolved in terms of cure, considering the less complex nature of the beta globin (β-globin) gene family compared to more complex multifactorial genetic disorders such as cancer. Currently, there are no definitive therapeutic options for patients with β-thalassemia and sickle cell anemia, and new insights into the pathogenesis of these devastating diseases are urgently needed. Here we address in detail the overall picture utilizing molecular diagnostic approaches that contribute to unraveling the population-specific mutational analysis of β-globin gene. We also present approaches for molecular diagnostic strategies that are applicable to β-thalassemia, sickle cell anemia, and other genetic disorders.
地中海贫血综合征是一组多样的遗传性疾病，可根据其一种或多种珠蛋白链合成不足或缺乏来进行特征描述。根据受影响的珠蛋白链，它们被分为α、β、γ、δβ、δ和 εγδβ地中海贫血。β地中海贫血是指那组遗传性血红蛋白疾病，其特征是β珠蛋白链合成减少（β(+)-地中海贫血）或缺乏（β(0)-地中海贫血）(1)。尽管被称为单基因疾病，但与癌症等更复杂的多因素遗传疾病相比，β地中海贫血和镰状细胞贫血等血红蛋白病在治愈方面远未得到完全解决，因为β珠蛋白基因家族的性质相对不那么复杂。目前，β地中海贫血和镰状细胞贫血患者没有明确的治疗选择，迫切需要对这些毁灭性疾病的发病机制有新的见解。在这里，我们详细阐述利用分子诊断方法的整体情况，这些方法有助于揭示β珠蛋白基因的群体特异性突变分析。我们还介绍了适用于β地中海贫血、镰状细胞贫血和其他遗传疾病的分子诊断策略方法。
