New Tele-expertise meeting on Rare Haemolytic Anaemias and Next Generation Sequencing (NGS)
The event has been the occasion to exchange best practices for the diagnosis and treatment of rare haematological diseases.
Last 28th of June, the ERN-EuroBloodNet held the 1st Tele-expertise meeting on Rare Haemolytic Anaemias and Next Generation Sequencing (NGS).
The meeting was chaired by Pr. Beatrice Gulbis, co-coordinator of the ERN-EuroBloodNet & Paola Bianchi, co-chair of the transversal field of action (TFA) on Best Practices.
The event has been the occasion to exchange best practices for the diagnosis and treatment of rare haematological diseases, in particular with the presentation of two guidelines:
- “Addressing the Diagnostic Gaps in Pyruvate Kinase Deficiency: Consensus Recommendations on the Diagnosis of PKD”, Paola Bianchi (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano).
- The Use of NextGeneration Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper, Noémi Roy (Oxford University Hospitals NHS Foundation Trust).
A total of 6 cases were then presented and discussed among the 40 participants that were present.
As new Virtual Board, this expert group will pursue its work in the CPMS. We invite you to join the movement and participate in these cases discussion on the platform.
If you would like to open a new panel on an unsolved case of rare haemolytic anaemia despite NGS and Other Laboratory tests, you can use the specific template that has been developed for this purpose: 30 Panels are still open in the ERN-EuroBloodNet platform waiting for additional contributions.
Do not miss the chance to contribute and share your experience and expertise! Register to the CPMS and contact our CPMS helpdesk (cpmshelpdesk(ELIMINAR)@euroblood.ern-net.eu) for additional information.