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Recommendations on Pyruvate Kinase Deficiency diagnosis

Recommendations on Pyruvate Kinase Deficiency diagnosis

Recommendations on Pyruvate Kinase Deficiency diagnosis

08/10/2020 17:00

Speakers: Paola Bianchi

Target: Health professionals
Subnetworks: Red blood cell defects
Disease Groups: Rare constitutional hemolytic anemia due to pyruvate kinase deficiency

Dr Paola Bianchi is head biologist working at  Hematology Unit, Physiopathology of Anemias Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico of Milan, Italy.  

Since 1993 she is involved in diagnosis and translational research on hemolytic anemias, both congenital (red cell membrane defects, erythroenzymopathies, congenital dyserythopoietic anemias) and acquired (paroxysmal nocturnal hemoglobinuria), contributing to the characterization of more than 200 erythroenymopathies,  50 cases of CDAII and many cases of  red cell membrane disorders. In 1993  she received the award of Italian Society of Hematology  with a research entitled "Erythrocyte pyruvate kinase hemolytic anemia: molecular study in 20 cases”. Dr Paola Bianchi was trained at University of Milan and completed her  post graduate  specialization in Biotechnological Applications in 1996.

By NGS (whole exome sequencing, targeted NGS platforms and genomic-proteomic approach she identified new genes responsible for rare forms of hemolytic anemia. She is involved in molecular diagnosis of mieloprolopherative disorders and rare forms of congenital erythrocytosis, participating to the JakNet Italian Network. She shared National and International projects on molecular characterization and genotype-phenotype correlation (by mutagenesis and in vitro expression of recombinant mutants), and studied the epigenetic factors that might influence clinical phenotype in these disorders and in particular  in Pyruvate kinase deficiency. She is involved in the PKD NHS study and member of the steering committee of  the International Peak registry for PK deficiency.  

Dr Paola Bianchi in member of  EuroBloodNet and of the  Steering Committee  of RADeep registries; Member of steering Committee EHA Guidelines (Anemia and related diseases). Since 2018 she is Associate editor of Red Blood Cell Physiology (specialty section of Frontiers In Physiology, Topic editor of Frontiers in Physiology Research Topic).