Abstract
In the recent years, the progress in genetic analysis and next-generation sequencing technologies have opened up exciting landscapes for diagnosis and study of molecular mechanisms, allowing the determination of a particular mutation for individual patients suffering from hereditary red blood cell-related diseases or anemia. However, the huge amount of data obtained makes the interpretation of the results and the identification of the pathogenetic variant responsible for the diseases sometime difficult. Moreover, there is increasing evidence that the same mutation can result in varying cellular properties and different symptoms of the disease. Even for the same patient, the phenotypic expression of the disorder can change over time. Therefore, on top of genetic analysis, there is a further request for functional tests that allow to confirm the pathogenicity of a molecular variant, possibly to predict prognosis and complications (e.g., vaso-occlusive pain crises or other thrombotic events) and, in the best case, to enable personalized theranostics (drug and/or dose) according to the disease state and progression. The mini-review will reflect recent and future directions in the development of diagnostic tools for red blood cell-related diseases and anemias. This includes point of care devices, new incarnations of well-known principles addressing physico-chemical properties, and interactions of red blood cells as well as high-tech screening equipment and mobile laboratories.
Highlights
Reviewed by: Egee Stéphane, UMR 8227 Laboratoire de Biologie Intégrative des Modèles Marins, France Yves Colin, INSERM U1134 Biologie Intégrée du Globule Rouge, France
The progress in genetic analysis and next-generation sequencing technologies have opened up exciting landscapes for diagnosis and study of molecular mechanisms, allowing the determination of a particular mutation for individual patients suffering from hereditary red blood cell-related diseases or anemia
On top of genetic analysis, there is a further request for functional tests that allow to confirm the pathogenicity of a molecular variant, possibly to predict prognosis and complications and, in the best case, to enable personalized theranostics according to the disease state and progression
Summary
There is a demand for novel diagnostic assays and devices from several perspectives. (i) Since we are still facing huge economic differences across our planet, there is a need (and a market) for low-cost diagnosis of common and rare red blood cell-related diseases. (i) Since we are still facing huge economic differences across our planet, there is a need (and a market) for low-cost diagnosis of common and rare red blood cell-related diseases. This includes sickle cell disease, thalassemia, malaria, and other less common hereditary and acquired hemolytic anemias. There is a need to establish the prognosis and possible complications of particular disease states and to determine an appropriate treatment. A consensus document highlighting major achievements in diagnosis and treatment of blood disorders, including rare red blood cell disorders, and identifying the greatest unmet clinical and scientific needs has been recently prepared by more than 300 experts belonging to the European Hematology Association (EHA) (Engert et al, 2016)
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