Research Topic

Pathophysiology of Rare Hemolytic Anemias

About this Research Topic

Hereditary hemolytic anemia is a heterogeneous group of diseases, many of which are rare or very rare. Roughly, these diseases can be subdivided into defects affecting the red cell’s major component (hemoglobinopathies), membrane and cytoskeleton (membranopathies), metabolism (enzymopathies), or production (hyporegenerative anemia). Intensive research from the recent past has identified numerous mutations in causative genes and has initiated the discovery of other new genes. This has enhanced our knowledge and led to a better understanding of the molecular basis of these diseases.

Although much progress has been made, there are still a number of unanswered questions. For example, we are still a long way from understanding the mechanism(s) involved in the recognition of metabolically effete red cells and their consequent premature destruction, the secondary changes imposed by the primary defect and their contribution to decreased cell survival, the exact role of ion channel (dys)function in red cell volume regulation. Moreover, for many defects, information on the genotype-to-phenotype correlation is scarce. And with the advent of gene panel analysis by Next Generation Sequencing, deciphering the complex interaction of different mutations in different genes becomes more and more relevant. Finally, for many of these rare diseases a proper management is still unsatisfactory.

The objective of this Research Topic is to enhance biochemical, molecular and clinical research in the field of rare hereditary hemolytic anemias, with the specific aim of further improving our understanding of the pathophysiology and molecular background of these disorders, which could ultimately result in novel therapeutic approaches. The Research Topic includes Original Research, Illustrative Case Reports, Methods, Reviews and Perspectives.


Keywords: (hemolytic) anemia, membranopathies, enzymopathies, dyserythropoiesis, channelopathies, pathophysiology


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Hereditary hemolytic anemia is a heterogeneous group of diseases, many of which are rare or very rare. Roughly, these diseases can be subdivided into defects affecting the red cell’s major component (hemoglobinopathies), membrane and cytoskeleton (membranopathies), metabolism (enzymopathies), or production (hyporegenerative anemia). Intensive research from the recent past has identified numerous mutations in causative genes and has initiated the discovery of other new genes. This has enhanced our knowledge and led to a better understanding of the molecular basis of these diseases.

Although much progress has been made, there are still a number of unanswered questions. For example, we are still a long way from understanding the mechanism(s) involved in the recognition of metabolically effete red cells and their consequent premature destruction, the secondary changes imposed by the primary defect and their contribution to decreased cell survival, the exact role of ion channel (dys)function in red cell volume regulation. Moreover, for many defects, information on the genotype-to-phenotype correlation is scarce. And with the advent of gene panel analysis by Next Generation Sequencing, deciphering the complex interaction of different mutations in different genes becomes more and more relevant. Finally, for many of these rare diseases a proper management is still unsatisfactory.

The objective of this Research Topic is to enhance biochemical, molecular and clinical research in the field of rare hereditary hemolytic anemias, with the specific aim of further improving our understanding of the pathophysiology and molecular background of these disorders, which could ultimately result in novel therapeutic approaches. The Research Topic includes Original Research, Illustrative Case Reports, Methods, Reviews and Perspectives.


Keywords: (hemolytic) anemia, membranopathies, enzymopathies, dyserythropoiesis, channelopathies, pathophysiology


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

23 November 2018 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..

Topic Editors

Loading..

Submission Deadlines

23 November 2018 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..

Comments

Loading..

Add a comment

Add comment
Back to top
);