Members

Name: María del Mar

Surname: Mañú Pereira

Academic title: BsC, PhD

Charge: Head of Research Lab in rare anemia

Which is your area of expertise for the "Disease/group of diseases"?

• Prevention and genetic counseling
• Diagnostics

Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):

Integrative diagnosis of rare anemia disorders combining conventional and innovative methodologies including x-OMICs for personalized medicine

Disease groups:

Alpha- thalassaemia diseases Beta-thalassemia and related diseases Hemoglobinopathy (Other than THAL and SCD) Hereditary elliptocytosis Hereditary spherocytosis Hereditary stomatocytosis Porphyrias Rare constitutional hemolytic anemia due to an enzyme disorder (Other than PKD) Rare constitutional hemolytic anemia due to pyruvate kinase deficiency Sickle cell disease and related diseases

Which is your patient age coverage?

• Pediatrics
• Adults

Scientific and Strategic Board member

Coordination team

TFA coordinator

Webinars:

• ENROL: Networking on European Registries in Rare Hematological Disorders
• Use cases challenges: MDS, SCD and MM
• Use case SCD overview of results (both from a technical and clinical perspective) + specific onboarding requirements (e.g. minimal dataset).