Members

Name: Dorine

Surname: Swinkels

Academic title: Prof. Dr.

Link to personal website:

http://www.radboud-ironcenter.com

Which is your area of expertise for the "Disease/group of diseases"?

• Diagnostics

Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):

Diagnostics

Diseases:

Acquired idiopathic sideroblastic anemia Rare anemia Sideroblastic anemia Constitutional sideroblastic anemia Rare deficiency anemia Constitutional deficiency anemia Rare acquired deficiency anemia 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?

• Pediatrics
• Adults
• Ageing

Member Representative

Scientific and Strategic Board member

Subnetwork Coordinator:

• Red blood cell defects

Subnetwork representative:

• Haemochromatosis and other iron disorders