Pediatric red blood cell disorders are widely distributed throughout the world and account for a considerable portion of congenital disorders. Their impact on children's health can range from asymptomatic to fatal forms, and the pediatrician is often the first specialist to come into contact with them. Within this group of pathologies, numerous entities can be distinguished, characterized by defects in the production/maturation of red blood cells and in their functionality or by their reduced survival. The great progress achieved in the field of biochemical, genetic, and molecular diagnostics has made it possible to characterize these defects more and more specifically. The therapeutic quiver available has also been expanded, with an increasingly marked direction towards precision medicine. However, in many cases, a curative approach is not yet available and many of the patients rely on long and demanding symptomatic treatments.
In this Research Topic, the most recent data on the diagnostic-therapeutic management of pediatric red blood cell diseases will be considered. Alongside the review of the currently used clinical work-ups, the most recent innovations in the diagnostic field (with particular attention to molecular genetics) and in the therapeutic field (with particular attention to the most recent clinical trials and therapies in advanced experimentation) will be revised. Furthermore, space will be given to the most significant and instructive clinical cases in the field of pediatric hematology. In consideration of the fact that even the pediatrician not specialized in pediatric hematology can find himself managing many of the pathologies discussed, the approach will be to calibrate the discussions to an increasing level of specificity and demanding symptomatic treatments.
The main themes that will be highlighted will be those concerning hemoglobinopathies, thalassemias, membrane defects and enzymatic defects anemias, autoimmune hemolytic anemias, polyglobulias, and iron metabolism. The focus will be on advances in understanding, characterization, and new diagnostic and treatment strategies. Furthermore, all those works that provide integrated and multi-system studies on the extra hematological problems associated with red blood cell diseases will be promoted.
Pediatric red blood cell disorders are widely distributed throughout the world and account for a considerable portion of congenital disorders. Their impact on children's health can range from asymptomatic to fatal forms, and the pediatrician is often the first specialist to come into contact with them. Within this group of pathologies, numerous entities can be distinguished, characterized by defects in the production/maturation of red blood cells and in their functionality or by their reduced survival. The great progress achieved in the field of biochemical, genetic, and molecular diagnostics has made it possible to characterize these defects more and more specifically. The therapeutic quiver available has also been expanded, with an increasingly marked direction towards precision medicine. However, in many cases, a curative approach is not yet available and many of the patients rely on long and demanding symptomatic treatments.
In this Research Topic, the most recent data on the diagnostic-therapeutic management of pediatric red blood cell diseases will be considered. Alongside the review of the currently used clinical work-ups, the most recent innovations in the diagnostic field (with particular attention to molecular genetics) and in the therapeutic field (with particular attention to the most recent clinical trials and therapies in advanced experimentation) will be revised. Furthermore, space will be given to the most significant and instructive clinical cases in the field of pediatric hematology. In consideration of the fact that even the pediatrician not specialized in pediatric hematology can find himself managing many of the pathologies discussed, the approach will be to calibrate the discussions to an increasing level of specificity and demanding symptomatic treatments.
The main themes that will be highlighted will be those concerning hemoglobinopathies, thalassemias, membrane defects and enzymatic defects anemias, autoimmune hemolytic anemias, polyglobulias, and iron metabolism. The focus will be on advances in understanding, characterization, and new diagnostic and treatment strategies. Furthermore, all those works that provide integrated and multi-system studies on the extra hematological problems associated with red blood cell diseases will be promoted.