ReviewFrontiers in physiology2020
Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias.
Review in Frontiers in physiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- In vitro investigation of the mechanics of fixed red blood cells based on optical trap micromanipulation and image analysis.Biomedical optics express · 2024Article
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 2024Article
- Big Data in Transfusion Medicine and Artificial Intelligence Analysis for Red Blood Cell Quality Control.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Artificial intelligence to assist specialists in the detection of haematological diseases.Heliyon · 2023Article
- Allogeneic hematopoietic stem cell transplantation to cure sickle cell disease: A review.Frontiers in medicine · 2023Review
- Gene Editing for Inherited Red Blood Cell Diseases.Frontiers in physiology · 2022Review
- Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications.Frontiers in physiology · 2022Article
- Emerging point-of-care technologies for anemia detection.Lab on a chip · 2021Review
- Red blood cell phenotyping from 3D confocal images using artificial neural networks.PLoS computational biology · 2021Article
- Article
- Rare Anemias: Are Their Names Just Smoke and Mirrors?Frontiers in physiology · 2021Article
- Donor Age and Red Cell Age Contribute to the Variance in Lorrca Indices in Healthy Donors for Next Generation Ektacytometry: A Pilot Study.Frontiers in physiology · 2021Article
- Early Career Scientists' Guide to the Red Blood Cell - Don't Panic!Frontiers in physiology · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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