Members

Name: Alberto

Surname: Piperno

Academic title: Professor of Genetics

Charge: Centre for Rare Diseases

Link to personal website:

https://www.emocromatosi.it

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 genetic analyses, Clinical management: diagnosis and therapeutics

Disease groups:

Aceruloplasminemia Acquired idiopathic sideroblastic anemia Beta-thalassemia and related diseases Congenital atransferrinemia Congenital dyserythropoietic anemia Constitutional megaloblastic anemia Constitutional sideroblastic anemia (excluding Severe congenital hypochromic anemia with ringed sideroblasts) Hereditary Hyperferritinemia with or without cataract (OMIM 600886) HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235201) Iron-refractory iron deficiency anemia syndrome Microcytic anemia with liver iron overload Myelodysplastic syndrome Rare acquired deficiency anemia (Plummer-Vinson syndrome) Rare hereditary hemochromatosis (Other than Type 1) Severe congenital hypochromic anemia with ringed sideroblasts Sickle cell disease and related diseases

Which is your patient age coverage?

• Adults

Member Representative