Experts

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

Diseases:

Rare anemia , Sideroblastic anemia , Constitutional sideroblastic anemia , X-linked sideroblastic anemia , Rare hemolytic anemia , Rare constitutional hemolytic anemia , Rare acquired hemolytic anemia , Rare deficiency anemia , Constitutional deficiency anemia , Constitutional anemia due to iron metabolism disorder , Rare hereditary hemochromatosis , HFE related hereditary hemochromatosis , Symptomatic form of hemochromatosis type 1 (OMIM 235200) , Hemochromatosis due to rare mutations in HFE (OMIM 235200) , Non-HFE related hereditary hemochromatosis , Hemochromatosis type 2(OMIM 602390, 613313) , Hemochromatosis type 2A (OMIM 602390) , Hemochromatosis type 2B (OMIM 613313) , Hemochromatosis type 3 (OMIM 604250) , Hemochromatosis type 5 (OMIM 615517) , Hemochromatosis type 4B (OMIM 606069) , Ferroportin Disease

Which is your patient age coverage?

• Adults

Member Representative

Scientific and Strategic Board member

TFA coordinator

Subnetwork representative:

• Bleeding - Coagulation
• HH-Iron