Members

Name: Noemi

Surname: Roy

Academic title: Consultant Haematologist

Link to personal website:

https://www.rdm.ox.ac.uk/people/noemi-roy

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):

Molecular Diagnosis

Diseases:

Thrombocytopenia with congenital dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Rare anemia Sideroblastic anemia Constitutional sideroblastic anemia Hemoglobinopathy Hemoglobin E disease Hemoglobin D disease Unstable hemoglobin disease Alpha-thalassemia and related diseases Beta-thalassemia and related diseases Sickle cell disease and related diseases Hemoglobin C disease Rare hemolytic anemia Rare constitutional hemolytic anemia Rare acquired hemolytic anemia Rare deficiency anemia Constitutional deficiency anemia Rare acquired deficiency anemia Constitutional dyserythropoietic anemia Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type I Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type II Congenital dyserythropoietic anemia type IV Majeed syndrome 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

Webinars:

• Adult Patients Quality of Life