Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies

Abstract

Introduction: 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.

Areas covered: 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.

Expert opinion: 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.

Keywords:

• molecular diagnosis
• technology transfer
• thalassemia

Declaration of interest

R Gambari was supported by funds from Fondazione Cariparo (Cassa di Risparmio di Padova e Rovigo), Consorzio Interuniversitario per le Biotecnologie (CIB), EU-Project THALAMOSS (THALAssaemia MOdular Stratification System for personalized therapy of β-thalassemia, FP7-HEALTH-2012-INNOVATION-1, Grant Agreement number 306201), Fondazione Telethon (contract GGP10124), and by the Associazione Veneta per la Lotta alla Talassemia (AVLT), based in Rovigo. M Borgatti was supported by the Ministry of Health, Italy, under their Young Investigators program (grant number: 098/GR-2009-1596647). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Notes

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