Members

Name: Achille

Surname: Iolascon

Academic title: Professor of Medical Genetics

Charge: Chairman of Medical Genetics Division

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):

Hemolytic anemias, CDAs, Iron Defects

Diseases:

Primary myelofibrosis Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome Thrombocytopenia with congenital dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Autosomal thrombocytopenia with normal platelets Congenital amegakaryocytic thrombocytopenia Rare anemia 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 Hemoglobinopathy Toms River Hereditary methemoglobinemia Hemoglobin C disease Hemoglobin M disease Acquired methemoglobinemia Rare hemolytic anemia Rare constitutional hemolytic anemia 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 acquired hemolytic anemia Paroxysmal nocturnal hemoglobinuria Aplastic anemia Rare constitutional aplastic anemia Blackfan-Diamond anemia Dyskeratosis congenita Fanconi anemia Revesz syndrome Hoyeraal-Hreidarsson syndrome WT limb-blood syndrome Shwachman-Diamond syndrome Autosomal dominant aplasia and myelodysplasia Hereditary isolated aplastic anemia Pancytopenia-developmental delay syndrome Rare acquired aplastic anemia Idiopathic aplastic anemia Red cell aplasia Transient erythroblastopenia of childhood Adult pure red cell aplasia Monocytopenia with susceptibility to infections 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 Pancreatic insufficiency-anemia-hyperostosis syndrome

Which is your patient age coverage?

• Adults

Member Representative

Scientific and Strategic Board member

TFA coordinator

Subnetwork Coordinator:

• Bone marrow failure

Subnetwork representative:

• Bone marrow failure