Members

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"?

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

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?

• Adults
• Ageing

Member Representative

Scientific and Strategic Board member

Subnetwork representative:

• Haemochromatosis and other iron disorders