Departments

About the department

Department name (English): Medical Genetics, Centre for Rare Diseases

Department name (original): Genetica Medica - Centro Malattie Rare

Subnetworks of expertise:

• Hemochromatosis and other iron disorders
• Red blood cell defects
• Bone marrow failure

Healthcare provider: Fondazione IRCCS San Gerardo dei Tintori

Diseases covered by the department:

• Acquired idiopathic sideroblastic anemia
• Rare anemia
• Sideroblastic anemia
• Constitutional sideroblastic anemia
• Autosomal recessive sideroblastic anemia
• Hemoglobinopathy
• Beta-thalassemia and related diseases
• Beta-thalassemia
• Beta-thalassemia with other manifestations
• Sickle cell disease and related diseases
• Sickle cell anemia
• Rare deficiency anemia
• Constitutional deficiency anemia
• Constitutional anemia due to iron metabolism disorder
• Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
• Constitutional megaloblastic anemia due to folate metabolism disorder
• Constitutional dyserythropoietic anemia
• Congenital dyserythropoietic anemia
• Congenital dyserythropoietic anemia type I
• Congenital dyserythropoietic anemia type II
• 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
• TFR2 related hereditary hemochromatosis OMIM 604250 (Hemochromatosis type 3)
• Ferroportin Disease (Hemochromatosis type 4B)​
• SLC40A1 related hereditary hemochromatosis - OMIM 606069 (Hemochromatosis type 4A)

Service offered

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

Patients covered

• Adults

Department e-mail: centromalattierare(ELIMINAR)@emocromatosi.it

Department phone number: +39 039 2339555

Description:
The Centre for Rare Diseases is a reference centre for disorders of iron metabolism (iron deficiency, including primary forms and complicated forms of acquired iron deficiency; iron overload, including hemochromatosis and othe primary defects of iron metabolism, and secondary iron overload; hyperferritinemias (hereditary-hyperferritinemia cataract syndrome; benign hyperferritinemia), and hereditary anemias (iron-related, thalassemia syndromes, sickle cell disease). The Centre is also involved in caring for adult patients with hereditary metabolic disorders being also a member of the MetabERN. The Centre cares for adult patients and strictly cohoperates with the Pediatric Department of the HCP for couselling and for transition from childhood to adultness. It also cohoperates with the adult Hematology UNits for myelodisplastic syndromes. It offers clinical and genetic diagnosis (at the Laboratory of Cytogenetics and Molecular Genetics within the Unit of Medical Genetics), clinical management and therapeutic interventions performed in dedicated areas within the HCP.