Members

Name: Patricia

Surname: Aguilar-Martinez

Academic title: Professor, Doctor

Charge: Head, Department of Haematology Biology, Coordinator Reference Centre on rare red cell disorders, Coordinator expert center on rare iron disorders

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

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

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

genetic counselling, molecular diagnosis

Disease groups:

Aceruloplasminemia Atypical hemolytic-uremic syndrome Congenital atransferrinemia 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 HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235201) Iron-refractory iron deficiency anemia syndrome Microcytic anemia with liver iron overload 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 Rare hereditary hemochromatosis (Other than Type 1) Severe congenital hypochromic anemia with ringed sideroblasts Typical hemolytic-uremic syndrome

Which is your patient age coverage?

• Adults

Member Representative

Scientific and Strategic Board member

TFA coordinator

Subnetwork representative:

• Bleeding - Coagulation disorders
• Hemochromatosis and other iron disorders

Ongoing projects:

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

Webinars:

• Genetic counselling of Hemophilia