Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias.

摘要: In the recent years, progress in genetic analysis and next-generation sequencing technologies have opened up exciting landscapes for diagnosis study of molecular mechanisms, allowing determination a particular mutation individual patients suffering from hereditary red blood cell-related diseases or anemia. However, huge amount data obtained makes interpretation results identification pathogenetic variant responsible sometime difficult. Moreover, there is increasing evidence that same can result varying cellular properties different symptoms disease. Even patient, phenotypic expression disorder change over time. Therefore, on top analysis, further request functional tests allow to confirm pathogenicity variant, possibly predict prognosis complications (e.g., vaso-occlusive pain crises other thrombotic events) and, best case, enable personalized theranostics (drug and/or dose) according disease state progression. The mini-review will reflect future directions development diagnostic tools anemias. This includes point care devices, new incarnations well-known principles addressing physico-chemical properties, interactions cells as well high-tech screening equipment mobile laboratories.