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 Congenital dyserythropoietic anemia Constitutional megaloblastic anemia Constitutional sideroblastic anemia (excluding Severe congenital hypochromic anemia with ringed sideroblasts) Hemoglobinopathy (Other than THAL and SCD) Hereditary elliptocytosis Hereditary spherocytosis Hereditary stomatocytosis Paroxysmal nocturnal hemoglobinuria 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

Subnetwork Coordinator:

• Red blood cell defects

Ongoing projects:

• Expert Group involved in Clinical Patients Management System
• Topic On Focus Webinar on Cutaneous Lymphoma for Health Professionals

Webinars:

• ENROL: Networking on European Registries in Rare Hematological Disorders