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"?
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?
Member Representative
Scientific and Strategic Board member
TFA coordinator
Subnetwork representative:
Name english: CHU de Montpellier
Name original: CHU de Montpellier
Name english: CHU de Montpellier
Name original: CHU de Montpellier
English name | Original name | Subnetworks of expertise | Healthcare provider |
---|---|---|---|
Department of Haematology Biology, Expert centre on rare iron disorders-centre for family screening | Département d’hématologie Biologique : Centre de compétence des surcharges en fer rares, Centre de dépistage familial de l'hémochromatose | HH-Iron | CHU de Montpellier |
Department of Haematology Biology - Regional Centre for the treatement of haemophilia patients and other rare bleeding disorders | Département d’hématologie Biologique : Centre régional de traitement de l’hémophilie (CRTH) et autres anomalies rares de la coagulation | Bleeding - Coagulation | CHU de Montpellier |