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

Lars Kaestner, Paola Bianchi

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number387
JournalFrontiers in Physiology
Publication statusPublished - May 26 2020


  • artificial intelligence
  • functional screening
  • mobile laboratory
  • personalized medication
  • physico-chemical properties
  • point of care
  • sickle cell disease

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)


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