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 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

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