Academic title: Professor of Genetics
Charge: Medical Genetics Unit and Centre for Rare Diseases
Link to personal website:
Which is your area of expertise for the "Disease/group of diseases"?
Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):
Molecular genetic analyses, Clinical management: diagnosis and therapeutics
Acquired idiopathic sideroblastic anemia Thrombocytopenia with congenital dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Rare anemia Sideroblastic anemia Thiamine-responsive megaloblastic anemia syndrome Severe congenital hypochromic anemia with ringed sideroblasts Hemoglobinopathy Beta-thalassemia and related diseases Beta-thalassemia Beta-thalassemia major Beta-thalassemia intermedia Dominant beta-thalassemia Beta-thalassemia associated with another hemoglobin anomaly Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Delta-beta-thalassemia Hemoglobin C-beta-thalassemia syndrome Hemoglobin E-beta-thalassemia syndrome Hemoglobin Lepore-beta-thalassemia syndrome Beta-thalassemia with other manifestations Beta-thalassemia-X-linked thrombocytopenia syndrome Sickle cell disease and related diseases Sickle cell anemia Sickle cell disease associated with an other hemoglobin anomaly Sickle cell-beta-thalassemia disease syndrome Sickle cell-hemoglobin C disease syndrome Sickle cell-hemoglobin D disease syndrome Sickle cell-hemoglobin E disease syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Rare deficiency anemia Constitutional deficiency anemia Constitutional anemia due to iron metabolism disorder Congenital atransferrinemia Aceruloplasminemia Microcytic anemia with liver iron overload IRIDA syndrome Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Transcobalamin deficiency Congenital intrinsic factor deficiency Homocystinuria without methylmalonic aciduria Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylcobalamin deficiency type cblDv1 Gräsbeck-Imerslund disease Constitutional megaloblastic anemia due to folate metabolism disorder Formiminoglutamic aciduria Hereditary folate malabsorption Constitutional megaloblastic anemia with severe neurologic disease Vitamin B12- and folate-independent constitutional megaloblastic anemia Hereditary orotic aciduria Hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency 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 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) HJV related hereditary hemochromatosis - OMIM 602390 (Hemochromatosis type 2A) HAMP related hereditary hemochromatosis - OMIM 613313 (Hemochromatosis type 2B) TFR2 related hereditary hemochromatosis OMIM 604250 (Hemochromatosis type 3) Ferroportin Disease (Hemochromatosis type 4B) SLC40A1 related hereditary hemochromatosis - OMIM 606069 (Hemochromatosis type 4A)
Which is your patient age coverage?
|English name||Original name||Subnetworks of expertise||Healthcare provider|
|Medical Genetics, Centre for Rare Diseases||Genetica Medica - Centro Malattie Rare||HH-Iron, Red blood cell, Bone marrow failure||S. Gerardo Hospital - Monza|