Specialist centers

Expert Centres

In this part you can see all the expert centres published by ENERCA and their services in the field of rare anaemia. Simply click on the country and the centres will appear, organised by city.

	Austria

	Belgium
	BRUXELLES CLINIQUE UNIVERSITAIRE DE BRUXELLES - HOPITAL ERASME Route de Lennik, 808. 1070 Bruxelles http://www.erasmeinfo.ulb.ac/be/globule/index.htm ENERCA services: 1. Enzymopathies: Glucose-6-phosphate dehydrogenase (G6PD). Pyruvate kinase (PK). Glucose phosphate isomerase (GPI). Phosphofructokinase (PFK). Triose phosphate isomerase (TPI). Phosphoglycerate kinase (PGK). Hexokinase (HK). Pyrimidin 5'nucleotidase (P5'N). 2. Membranopathies: Hereditary spherocytosis (HS). Minkowski Chauffard Disease. 3. Haemoglobinopathies: Sickle cell anaemia. Thalassaemias. CLINIQUES UNIVERSITAIRES ST. LUC Av / Hippocrate, 10, boîte 1745. Bruxelles http://www.erasmeinfo.ulb.ac/be/globule/index.htm ENERCA services: Phenotypic diagnosis of 1. Enzymopathies: Glucose-6-phosphate dehydrogenase (G6PD). Pyruvate kinase (PK). 2. Haemoglobinopathies: Structural haemoglobinopathies. Thalassaemias. Molecular diagnosis of haemoglobinopathies involving: alpha genes (a1, a2), beta gene (PCR Lepore), gamma genes (Ag,Gg). Follow up and treatment ( bone marrow transplantation) of patients with: 1. Enzymopathies: Glucose-6-phosphate dehydrogenase (G6PD). Pyruvate kinase (PK). Glucose phosphate isomerase (GPI). Phosphofructokinase (PFK). Triose phosphate isomerase (TPI). Phosphoglycerate kinase (PGK). Hexokinase (HK). Pyrimidin 5'nucleotidase (P5'N). 2. Membranopathies: Hereditary spherocytosis (HS). Minkowski Chauffard Disease. 3. Haemoglobinopathies: Sickle cell anaemia. Thalassaemias. HOPITAL UNIVERSITAIRE DES ENFANTS REINE FABIOLA Av / J.J. Crocq, 15. 1070 Bruxelles http://www.huderf.be/ ENERCA services: Follow up and treatment ( bone marrow transplantation) of patients with: 1. Enzymopathies: Glucose-6-phosphate dehydrogenase (G6PD). Pyruvate kinase (PK). Glucose phosphate isomerase (GPI). Phosphofructokinase (PFK). Triose phosphate isomerase (TPI). Phosphoglycerate kinase (PGK). Hexokinase (HK). Pyrimidin 5'nucleotidase (P5'N). 2. Membranopathies: Hereditary spherocytosis (HS). Minkowski Chauffard Disease. 3. Haemoglobinopathies: Sickle cell anaemia. Thalassaemias. LIÈGE HOPITAL DE LA CITADELLE Blvd du 12ème de Ligne, 1. 4000 Liège http://www.erasmeinfo.ulb.ac/be/globule/index.htm ENERCA services: Follow up and treatment ( bone marrow transplantation) of patients with 1. Enzymopathies: Glucose-6-phosphate dehydrogenase (G6PD). Pyruvate kinase (PK). Glucose phosphate isomerase (GPI). Phosphofructokinase (PFK). Triose phosphate isomerase (TPI). Phosphoglycerate kinase (PGK). Hexokinase (HK). Pyrimidin 5'nucleotidase (P5'N). 2. Membranopathies: Hereditary spherocytosis (HS). Minkowski Chauffard Disease. 3. Haemoglobinopathies: Sickle cell anaemia. Thalassaemias.
	Cyprus
	NICOSIA THE CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS International Airport Avenue, 6 - Ayios Dometios. 1683 Nicosia http://wwwcing.ac.cy/ ENERCA services: Prenatal diagnosis of alpha-/beta-thalassaemias and haemoglobinopathies.
	Czech Republic

	Denmark
	BALLERUP NEUROSEARCH A/S Pederstrupvej, 93, 2750 Ballerup Website: http://www.neurosearch.com/ Areas of Expertise: Ion channels, electrophysiology, sickle cell disease. COPENHAGEN RIGSHOSPITALET. CLINICAL BIOCHEMISTRY AND PAEDIATRICS Dept's of Haematology, section 4042, Blegdamsvej no.9. Copenhagen Website: http://www.blodsygdomme.dk/ Areas of Expertise: Anaemia and other congenital cytopenias. Diagnostic procedures for congenital anaemias. HERLEV HERLEV UNIVERSITY HOSPITAL, DEPARTMENT OF HAEMATOLOGY. Center of Haemoglobin disorders, Herlev Website: http://www.haemoglobinopati.dk/ Areas of Expertise: Benignant Hematology. A variety of benignant hematology disorders including iron metabolic diseases, Haemoglobinopathies and hemolytic diseases.
	Estonia

	Finland

	France
	AMIENS Université de Picardie Jules Verne Faculté de médecine d’Amiens http://www.u-picardie.fr/decouverte/sante/pages/fm.htm Laboratoire de génétique médicale 3, rue des Louvels - 80036 Amiens CRETEIL (voir PARIS) LE KREMLIN-BICETRE (voir PARIS) LYON HOPITAL EDOUARD HERRIOT Fédération de biochimie et de biologie spécialisée Unité de pathologie moléculaire 5, place d'Arsonval - 69437 Lyon Cedex 3 http://www.chu-lyon.fr/internet/chu/etablissements/heh/heh_soins.htm ENERCA Services: MARSEILLE HOPITAL LA TIMONE ENFANTS - AP HM Laboratoire de génétique moléculaire 27, bd Jean Moulin - 13385 Marseille Cedex 5 http://www.ap-hm.fr/aphm/fr/site/accueil.asp ENERCA services: HOPITAL LA TIMONE ENFANTS - AP HM Centre de référence des thalassémies Service de pédiatrie et d'hématologie pédiatrique 27, bd Jean Moulin -13385 Marseille Cedex 5 http://www.ap-hm.fr/aphm/fr/site/accueil.asp ENERCA Services: MONTPELLIER HOPITAL SAINT ELOI - CHU MONTPELLIER Centre de dépistage familial des maladies rares du globule rouge et du fer Laboratoire d'hématologie 80, av. Augustin Fliche - 34295 Montpellier Cedex 5 http://www.chu-montpellier.fr/fr/index.html ENERCA Services: - Hematology - Genetic counselling on red cells and iron disorders - Molecular biology of hemoglobinopathies and rare iron disorders PARIS - ILE DE FRANCE (Assistance Publique - Hôpitaux de Paris) HOPITAL ROBERT DEBRE - AP HP Département de génétique Unité de Génétique Moléculaire et Biochimie 48, bd Sérurier - 75019 Paris http://robertdebreparis.aphp.fr/fr/accueil.php ENERCA Services: Genetic HOPITAL TENON - AP HP Centre de référence commun pour les syndromes drépanocytaires majeurs Service d'hématologie biologique 4, rue de la Chine - 75970 Paris Cedex 20 http://www.aphp.fr/site/actualite/pop_centre11_2004.htm ENERCA Services: HOPITAL HENRI MONDOR - AP HP Centre de référence commun pour les syndromes drépanocytaires majeurs Service de médecine interne 51, Avenue du Maréchal de Lattre de Tassigny - 94010 Créteil Cedex http://www.aphp.fr/site/actualite/pop_centre11_2004.htm ENERCA Services: HOPITAL DE BICETRE - AP HP Centre de référence des maladies constitutionnelles de l’érythropoïèse et du globule rouge (en dehors de la drépanocytose) Service d’hématologie, d’immunologie et de cytogénétique 78, rue du Général Leclerc - 94275 Le Kremlin-Bicêtre http://www.aphp.fr/site/actualite/pop_centre10_2004.htm ENERCA Services: POINTE A PITRE (GUADELOUPE) CHU de Pointe à Pitre Abymes Centre de référence de la drépanocytose BP465 - 97159 Pointe à Pitre http://www.chu-guadeloupe.fr/fr/fw_index.asp ENERCA Services:
	Germany
	BERLIN UNIVERSITÄTSKLINIKUM CHARITÉ BERLIN Augustenburger Platz 1. 13353 Berlin http://www.charite.de/ ENERCA services: Congenital bone marrow failure syndromes. BONN ASKLEPIOS KINDERKLINIK ST. AUGUSTIN Arnold-Hansen-Str. 29. 53757 St. Augustin http://www.asklepios.de/ ENERCA services: Sickle cell anaemia BREMEN Pekrun Arnulf, Prof. Dr. med. Zentrum für Kinderheilkunde und Jugendmedizin KLINIKUM BREMEN St. Jürgenstr. 1. 28205 Bremen Tel. 49 421/4973656 / Fax Enerca Member: Yes e-mail: kinderonkologie@zkh-bremen-mitte.de Website: Areas of Expertise: Erythroenzymopathies. Congenital red cell membrane defects. Haemoglobinopathies FREIBURG UNIVERSITÄTSKLINIKUM FREIBURG Mathildenstr. 1. 79106 Freiburg http://www.uni-freiburg.de/ ENERCA services: Congenital bone marrow failure syndromes. GÖTTINGEN UNIVERSITÄTSKLINIKUM GÖTTINGEN Robert-Koch-Str. 40. 37075 Göttingen http://www.humanmedizin-goettingen.de/ ENERCA services: Erythroenzymopathies, congenital red cell membrane defects, haemoglobinopathies and molecular biology thereof. HANNOVER MEDIZINISCHE HOCHSCHULE HANNOVER Carl-Neuberg-Str. 1. 30625 Hannover http://www.mh-hannover.de/ ENERCA services: Congenital bone marrow failure syndromes. HEIDELBERG UNIVERSITÄTSKLINIKUM HEIDELBERG Im Neuenheimer Feld 150. 69120 Heidelberg http://www.uni-heidelberg.de/ ENERCA services: Congenital bone marrow failure syndromes. ULM MEDIZINISCHE UNIVERSITÄTSKLINIK Robert-Koch-Straβe 8. 89081 Ulm http://www.uni-ulm.de/ ENERCA services: Rare anaemias. Congenital bone marrow failure syndromes. Especially congenital dyserythropietic anaemias (CDAs). UNIVERSITÄTSKLINIK FÜR KINDER- UND JUGENDMEDIZIN Prittwitzstraβe 43, 89075 Ulm http://www.uniklinik-ulm.de/struktur/kliniken/kinder-und-jugendmedizin.html ENERCA services: Rare anaemias. Congenital bone marrow failure syndromes. Especially Thalassaemia and Haemoglobinopathies
	Greece
	Foundation of Biomedical Research Academy Division of Haematology Soranou tou Efessiou 4 11527 Athens http://www.bioacademy.gr/ ENERCA services. Control of Thalassaemia and Sickle Cell Disease. Epidemiology.
	Hungary

	Ireland

	Italy
	CAGLIARI OSPIDALE MICROCITEMICO, UNIVERSITÀ DE CAGLIARI Via Jenner s/n. 09121 Cagliari http://www.mcweb.unica.it/ ENERCA services: Thalassaemias and haemoglobinopathies. Red blood cell enzyme defects. Neutropenias. CATANIA CENTRO DI RIFERIMENTO REGIONALE DI EMATOLOGIA ED ONCOLOGIA PEDIATRICA Via S. Sofia, 78. 95123 Catania http://www.mcweb.unica.it/ ENERCA services: Sickle cell disease. GENOVA GASLINI CHILDREN Largo G. Gaslini, 5. 16147 Genova ENERCA services: Aplastic anaemia. MILANO INSTITUTO SIENTIFICO SAN RAFFAELE Via olgettina, 60. 20132 Milano ENERCA services: IRCCS OSPEDALE MAGGIORE Via Francesco Sforza, 35. 09121 Milano http://www.mcweb.unica.it/ ENERCA services: Thalassaemia. Glucose-6-phosphate dehydrogenase (G6PD). Heme biosynthesis pathway (Porphyrias). Haemolytic anaemias, acquired and congenital (enzymopathies, membrane defects). UNIVERSITÀ DEGLI STUDI DI MILANO Dip. Scienze e Tecnologie Biomediche Via Fratelli Cervi, 93. 20090 Segrate Milano ENERCA services: Control and calibration materials for HbA2, mass spectrometry for the characterization of Hb variants, reference method for HbA2 and HbA1c, EQAS service. NAPOLI OSPIDALE "ELENA D'AOSTA" Via Cagnazzi, 29. 80145 Napoli ENERCA services: Medical genetics. Cytogenetics. Chromosomal instability. CEINGE S.C.A.R.L. Via Comunale Margherita, 482. 80145 Napoli http://www.ceinge.it/ ENERCA services: Genetic counselling. Diagnosis of inhereted anaemias, haemolytic anaemias, red cell membrane defects. PAVIA IRCCS POLICLINICO SAN MATTEO P.le glogi, 2. 27100 Pavia ENERCA services: Bone marrow transplantation. UNIVERSITÀ DI PAVIA Dipartimento di Biochimica Via Bassi, 21. 27100 Pavia http://www.unipv.it/bioscipv ENERCA services: Erythrocyte membrane. Erythrocyte ageing. TORINO UNIVERSITÀ DI TORINO Div. Ematologia Piazza Polonia, 94. 10126 Torino ENERCA services: Blackfan-Diamond Anaemia
	Latvia

	Lithuania

	Luxembourg

	Malta

	Netherlands
	UTRECHT UNIVERSITY MEDICAL CENTER UTRECHT Department of Clinical Chemistry and Haematology Heidelberglaan. 3284 CX Utrecht website: ENERCA services: Membrane defects. Enzymopathies.
	Poland
	WARSAW INSTITUTE OF HAEMATOLOGY AND BOOD TRANSFUSION Chocimska, 5. 00-957 Warsaw Website: http://www.ihit.waw.pl/ Areas of Expertise: Hereditary anemias, congenital disorders of glycosylation, glycosphingolipids
	Portugal
	COIMBRA CENTRO HOSPITALAR COIMBRA Av. Bissaya Barreto, 3000-076 Coimbra http://www.chc-hematologia.org/ ENERCA services: Quantification of red blood cell enzymes related to hereditary anaemias and moecular diagnosis of: G6PD, PK and P5'N deficiency, Gilbert syndrome (UTG gene). Haemoglobinopathies: Diagnosis of beta thalassaemia, alpha thalassaemia, delta-beta thalassaemia, sickle cell disease, haemoglobin variants. Molecular diagnosis of haemochromatosis (genes HFE and TFr). Molecular diagnosis of hereditary polycythemia (genes EpoR, VHL, HBB, HBA). Blackfan-Diamond anaemia: RPS19 - molecular study. Sideroblastic anaemia, X-linked - moelcular diagnosis (gene ALAS-2). Molucular diagnosis of red blood cell membrane disorders. LISBOA INSTITUTO NACIONAL DE SAÚDE DR. RICARDO JORGE Av. Padre Cruz, 1649-016 Lisboa http://www.insarj.pt/ ENERCA services: Diagnosis of beta thalassaemia, alpha thalassaemia, sickle cell disease haemoglobin variants. Molecular diagnosis of haemochromatosis. PORTO HOSPITAL DE CRIANÇAS MARIA PIA Rua da Boavista, 827. 4050-111 Porto ENERCA services: Study of membranopathies, haemoglobinopathies, enzymopathies.
	Slovakia

	Slovenia

	Spain
	BARCELONA HOSPITAL CLÍNIC I PROVINCIAL c/ Villarroel, 170. 08036 Barcelona http://www.hospitalclinic.es ENERCA services: 1. General haematology and blood disorders. 2. Clinical and laboratory diagnosis of anaemias and red cell pathology: Haemoglobinopathies (structural and thalassaemic variants and sickle cell anaemia), Enzyme deficiencies, Membrane defects. HOSPITAL SANT PAU Av. Sant Antoni Maria Claret, 167. 08025 Barcelona http://www.santpau.es/ ENERCA services: Red blood cell pathology. Disorders of Cobalamin (Vitamin B12), folate and iron. Iron overload and haemochromatosis. Diagnosis and treatment. HOSPITAL SAN JUAN DE DIOS Pg. Sant Joan de Déu, 2. 08950 Esplugues de Llobregat (Barcelona) http://www.santpau.es/ ENERCA services: Reference Centre for Thalassaemias. Diagnosis and treatment. CÁDIZ HOSPITAL U PUERTA DEL MAR Avda. Ana de Viya, 21. Cádiz ENERCA services: Haemoglobinopathies. Thalassaemias. Enzymopathies. Dyserythropoietic anaemias. Red cell membrane defects. ISLAS BALEARES - MAO HOSPITAL VERGE DEL TORO c/ Barcelona, 3. 07701 Mahón http://www.smen.es/ ENERCA services: General haematology and blood disorders. LAS PALMAS DE GRAN CANARIA HOSPITAL DE GRAN CANARIA DOCTOR NEGRÍN Barranco de la Ballena, s/n. Las Palmas de Gran Canaria http://www.gobcan.es/sanidad/scs/hospitaldoctornegrin.htm ENERCA services: MADRID HOSPITAL CLÍNICO SAN CARLOS c/Profesor Martín Lagos s/n. Madrid http://www.hcsc.es/ ENERCA services: Congenital membrane defects: Hereditary spherocytosis (HS) and Paroxysmal nocturnal haemoglobinuria (PNH). Diagnosis of haemoglobinopathies, thalassaemias and erythrocytosis. Prenatal diagnosis of haemoglobinopathies and thalassaemias. Functional haemoglobin studies. Hereditary haemochromatosis. HOSPITAL UNIVERSITARIO DOCE DE OCTUBRE Avenida de Córdoba s/n. 28041 Madrid http://www.h12o.es/ ENERCA services: Genotypic diagnosis of : 1. Haemoglobinopathies :Structural haemoglobinopathies (Sickle cell anaemia and others leading to anaemia) and Thalassaemias (a thalassaemia, b thalassaemia and db thalassaemia) 2. Red cell enzymopathies : Glucose-6-phosphate dehydrogenase (G6PD) deficiency. Pyruvate kinase (PK). Prenatal diagnosis of : 1. Haemoglobinopathies :Structural haemoglobinopathies (Sickle cell anaemia and others leading to anaemia) and Thalassaemias (a thalassaemia, b thalassaemia 2. Red cell enzymopathies : deficiency. Pyruvate kinase (PK). Follow-up and treatment of patients with : 1. Red cell enzymopathies : Glucose-6-phosphate dehydrogenase (G6PD) deficiency. Pyruvate kinase (PK). Glucose phosphate isomerase (GPI). Phosphofructokinase (PFK). Triose phosphate isomerase (TPI). Phosphoglycerate kinase (PGK). Hexokinase (HK). Pyrimidine 5´nucleotidase (P5'N) 2. Congenital red cell membrane defects :Hereditary spherocytosis (HS). Minkowski Chauffard Disease. 3. Haemoglobinopathies :Structural haemoglobinopathies (Sickle cell anaemia and others leading to anaemia) and Thalassaemias (a thalassaemia, b thalassaemia and db thalassaemia). VALENCIA HOSPITAL LA FE Avda. Campanar, 21. 46009 Valencia ENERCA services: Haemoglobinopathies VIZCAYA HOSPITAL DE CRUZES http://www.hospitalcruces.org/ ENERCA services: Erythropathology. Iron.
	Sweden
	STOCKHOLM CHILDREN'S HOSPITAL. KAROLINSKA UNIVERSITY HOSPITAL Huddinge 141 86 Stockholm Website: http://info.ki.se/index_en.html Areas of Expertise: Inborn errors in metabolism of glutathione. UMEÅ UMEA UNIVERSITY - Dept. of Family Medicine 901 85 Umeå Website: http://www.umu.se/phmed/medicin/ Areas of Expertise: Congenital diserythropoieitc anaemia type III (CDA-III), Bone marrow transplantation.
	United Kingdom
	BELFAST QUEEN'S UNIVERSITY BELFAST, Dpt. Haematology Belfast B12 7AB ENERCA Services: DNA analysis of suspected mutant genes. Erythrocytosis due to erythropoietin receptor gene and related signalling defects. Website: BRISTOL INTERNATIONAL BLOOD GROUP REFERENCE LAB Southmead Road, Bristol, BS10 5ND Website: www.bloodnet.nbs.nhs.uk/ibgrl ENERCA Services: Red cell membrane defects. Spherocytosis, elliptocytosis. Spectrin, ankyrin, band 3 defects, Blood group genotyping, Band 3 defects. Spherocytosis, South-East asian ovalocytosis, renal tubular acidosis. CARDIFF UNIVERSITY HOSPITAL OF WALES, DPT. OF MEDICAL BIOCHEMIST Porphyria Service, Heath Park, Cardiff, CF14 4XW Website: http://www.uwcm.ac.uk/ ENERCA Services: Biochemical and genetic analysis for all types of porphyria. GLASGOW WESTERN INFIRMARY, DEPARTMENT OF HAEMATOLOGY Glasgow G11 6NT Website: ENERCA Services: Sideroblastic anaemia due to dALA synthase and ABC7 transporter deficiency LONDON GUY’S HOSPITAL, DIVISION OF MEDICAL & MOLECULAR GENETICS 8th Floor Guy’s Tower, London SE1 9RT Website: ENERCA Services: Fanconi’s anaemia, Pyrimidine 5'-nucleotidase deficiency and other purine/pyrimidine disorders. Biochemical diagnosis of many pyrimidine disorders. Many red cell assays. DNA analysis. IMPERIAL COLLEGE SCHOOL OF MEDICINE DPT. OF HAEMATOLOGY 4th Floor Commonwealth Building, Hammersmith Hospital, Du Ca. London Website: ENERCA Services: Dyskeratosis congenita, Glycolytic defects, G6PD deficiency and other erythroenzymopathies, Haemophagocytic lymphohistiocytosis. KING'S COLLEGE HOSPITAL, DEPT. OF HAEMATOLOGICAL MEDICINE Denmark Hill, London SE5 9RS Website: ENERCA Services: Glycolytic defects, G6PD deficiency and other erythroenzymopathies. Abnormal Hbs, Hypotransferrinaemia, Porphyrias. Multiple enzyme assays for red cell metabolism. Diagnosis of unusual sickle combinations in small infants (less than one year) and also unstable haemoglobins which have been the more severe ones hence caused significant haemolysis in small children, by analysis of whole blood using Mass Spectrometry. KING'S COLLEGE LONDON. METALLOPROTEIN RESEARCH GRP. DIV. BIOMEDICAL SC Randall Div. Cell & Molecular Biophysics. 3.6A New Hunt's House. Guy's Campus. SE1 1UL. London Website: ENERCA Services: Identification and characterisation of iron-binding properties of transferrin variants. Determination of transferrin saturations in serum and plasma samples. ST GEORGE’S HOSPITAL - DEPARTMENT OF HAEMATOLOGY Blackshaw Road, London SW17 Website: ENERCA Services: Diamond- Blackfan anaemia (international genetics collaborative study): Study of probands and first degree relatives. Red Blood Cell ADA assays and RPS19 mutation analysis UNIVERSITY COLLEGE LONDON MEDICAL SCHOOL, DPT. OF MEDICINE The Rayne Institute, 5 University Street, London WC1E 6JJ Website: ENERCA Services: Hereditary stomatocytosis and cryohydrocytosis. OXFORD JOHN RADCLIFFE HOSPITAL, INSTITUTE OF MOLECULAR MEDICINE MRC Molecular haematology Unit, Headington, OX3 9DS Website: http://www.imm.ox.ac.uk/mhu/ ENERCA Services: Alpha thalassaemia mutations (DNA diagnosis) NATIONAL HAEMOGLOBINOPATHY REFERENCE LABORATORY Oxford Haemophilia Centre, Churchill Hospital, OX3 7LJ Website: http://www.cmgs.org/labdir/labs/oxford_nhrc.htm ENERCA Services: Diagnosis and sequencing of mitochondrial molecular defects. Haemoglobinopathies: Molecular defects