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 sideroblastic anemia (excluding Severe congenital hypochromic anemia with ringed sideroblasts) HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235201) Iron-refractory iron deficiency anemia syndrome Microcytic anemia with liver iron overload Porphyrias 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:

• Hemochromatosis and other iron disorders

Webinars:

• Genetic counselling of Hemophilia