Academic title: Professor
Charge: Head of Division of Pediatrics & Hemoglobinopathies Centre
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Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):
Rare anemia Thiamine-responsive megaloblastic anemia syndrome Severe congenital hypochromic anemia with ringed sideroblasts Hemoglobinopathy Hemoglobin E disease Hemoglobin D disease Unstable hemoglobin disease Alpha-thalassemia and related diseases Alpha-thalassemia Hemoglobin H disease Hb Bart's hydrops fetalis Alpha-thalassemia-related diseases Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Alpha-thalassemia-myelodysplastic syndrome 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 Hereditary methemoglobinemia Hemoglobin C disease Hemoglobin M disease Acquired methemoglobinemia Rare hemolytic anemia Rare constitutional hemolytic anemia Lethal hemolytic anemia-genital anomalies syndrome Atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome with DGKE deficiency Atypical hemolytic-uremic syndrome with C3 anomaly Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly Atypical hemolytic-uremic syndrome with B factor anomaly Atypical hemolytic-uremic syndrome with H factor anomaly Atypical hemolytic-uremic syndrome with I factor anomaly Atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Familial LCAT deficiency Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Rare constitutional hemolytic anemia due to a red cell membrane anomaly Hereditary spherocytosis Hereditary elliptocytosis Distal renal tubular acidosis with anemia Hereditary stomatocytosis Overhydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis Rh deficiency syndrome Familial pseudohyperkalemia Southeast Asian ovalocytosis Hereditary cryohydrocytosis with reduced stomatin Hereditary cryohydrocytosis with normal stomatin Constitutional hemolytic anemia due to acanthocytosis Abetalipoproteinemia McLeod neuroacanthocytosis syndrome Primary CD59 deficiency Rare constitutional hemolytic anemia due to an enzyme disorder Congenital erythropoietic porphyria Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Glutathione synthetase deficiency Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Gamma-glutamylcysteine synthetase deficiency Hemolytic anemia due to glutathione reductase deficiency 6-phosphogluconate dehydrogenase deficiency Hemolytic anemia due to a disorder of glycolytic enzymes Glycogen storage disease due to muscle phosphofructokinase deficiency Triose phosphate-isomerase deficiency Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Hemolytic anemia due to red cell pyruvate kinase deficiency Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency Non-spherocytic hemolytic anemia due to hexokinase deficiency Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Class I glucose-6-phosphate dehydrogenase deficiency Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Heinz body anemia 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 Rare acquired deficiency anemia Plummer-Vinson 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) 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) FTH related hereditary hemochromatosis - OMIM 615517 (Hemochromatosis type 5)
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Scientific and Strategic Board member
|English name||Original name||Subnetworks of expertise||Healthcare provider|
|Division of Pediatrics & Hemoglobinopathies Centre, Department of Clinical and Biological Sciences||Centro Microcitemie-Pediatria, Dipartimento di Scienze Cliniche e Biologiche||Haemochromatosis and other iron disorders, Red blood cell defects||AOU S.Luigi Gonzaga|