Name: Graça
Surname: Porto
Academic title: MD, PhD
Charge: Chief Consultant
Link to personal website:
http://www.i3s.up.pt/content/people?id=81&idg=3
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):
Clinical, Imagiological & Molecular Diagnosis Genetic Counseling Clinical Management
Diseases:
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) TFR2 related hereditary hemochromatosis OMIM 604250 (Hemochromatosis type 3) FTH related hereditary hemochromatosis - OMIM 615517 (Hemochromatosis type 5) Ferroportin Disease (Hemochromatosis type 4B) SLC40A1 related hereditary hemochromatosis - OMIM 606069 (Hemochromatosis type 4A)
Which is your patient age coverage?
Member Representative
Scientific and Strategic Board member
Subnetwork representative:
Name english: Centro Hospitalar do Porto, EPE
Name original: Centro Hospitalar do Porto, EPE
Name english: Centro Hospitalar do Porto, EPE
Name original: Centro Hospitalar do Porto, EPE
English name | Original name | Subnetworks of expertise | Healthcare provider |
---|---|---|---|
Clinical Haematology | Hematologia Clínica | Myeloid malignancies, Lymphoid malignancies, Haemochromatosis and other iron disorders | Centro Hospitalar do Porto, EPE |