Breveglieri Giulia, Finotti Alessia, Borgatti Monica, Gambari Roberto
a 1 University of Ferrara, Section of Biochemistry and Molecular Biology, Department of Life Sciences and Biotechnology , Ferrara, Italy.
b 2 University of Ferrara, Section of Biochemistry and Molecular Biology, Department of Life Sciences and Biotechnology , Via Fossato di Mortara 74, 44121 Ferrara, Italy +39 05 32 97 44 43 ; +39 05 32 97 45 00 ;
Expert Opin Ther Pat. 2015;25(12):1453-76. doi: 10.1517/13543776.2015.1090427. Epub 2015 Sep 28.
Biological tests and genetic analyses for diagnosis and characterization of hematological diseases in health laboratories are designed with the aim of meeting the major medical needs of hospitals and pharmaceutical companies involved in this field of applied biomedicine. Genetic testing approaches to perform diagnosis consist of molecular techniques, which should be absolutely reproducible, fast, sensitive, cheap, and portable.
Biological tests analyzed involve adult/newborn subjects, whereas genetic analyses involve adult thalassemia patients, newborns, embryos/fetuses (including non-invasive prenatal diagnosis), pre-implantation embryos, and pre-fertilization oocytes.
The most recent findings in the diagnostic approach for β-thalassemias are related to three major fields of investigation: moving towards ultrasensitive methodologies for effective detection of the primary causative mutation of β-thalassemia, including the development of polymerase chain reaction-free approaches and non-invasive prenatal diagnosis; comparing analyses of the genotype of β-thalassemia patients to high-HbF-associated polymorphisms; introducing whole genome association assays and next-generation sequencing. All these issues should be considered and discussed in the context of several aspects, including regulatory, ethical and social issues. DNA sequence data aligned with the identification of genes central to the induction, development, progression, and outcome of β-thalassemia will be a key point for directing personalized therapy.
健康实验室中用于血液疾病诊断和特征分析的生物学检测和基因分析，旨在满足参与这一应用生物医学领域的医院和制药公司的主要医疗需求。用于诊断的基因检测方法包括分子技术，这些技术应绝对可重复、快速、灵敏、廉价且便于携带。
所分析的生物学检测涉及成人/新生儿受试者，而基因分析涉及成人地中海贫血患者、新生儿、胚胎/胎儿（包括无创产前诊断）、植入前胚胎和受精前卵母细胞。
β地中海贫血诊断方法的最新发现涉及三个主要研究领域：朝着超灵敏方法发展，以有效检测β地中海贫血的主要致病突变，包括开发无聚合酶链反应方法和无创产前诊断；比较β地中海贫血患者基因型与高HbF相关多态性的分析；引入全基因组关联分析和下一代测序。所有这些问题都应在包括监管、伦理和社会问题等几个方面的背景下进行考虑和讨论。与β地中海贫血的诱导、发展、进展和结果核心基因鉴定相关的DNA序列数据，将是指导个性化治疗的关键要点。
