ESH-Enerca in assoc. with TIF Training Course on HAEMOGLOBIN DISORDERS

April 01 - April 02, 2011 - Brussels, Belgium

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Sickle cell disease, thalassaemia and other haemoglobin disorders are among the most frequent inherited pathologies worldwide, but until relatively recently they were considered to be rare red cell disorders in European countries. Population changes in Europe during the 20th century have led to such an increase in their prevalence, that they are now considered to be public health problems in some countries. At the same time, significant progress has been made in the clinical and laboratory diagnosis, and in the clinical management of these disorders.
This ENERCA course addresses all the clinical, biological and epidemiological aspects of these disorders.

Programme

Friday, April 1, 2011
	Session I - Thalassaemias Clinical and Molecular Aspects
09h00 - 09h30	Structure, genetic control and synthesis of haemoglobin, classification of disorders of haemoglobin Thalassaemias and related disorders (α and β globin clusters)	D. Loukopoulos (Athens)
09h30 - 10h00	ß-thalassaemia: - Molecular defects - Genotype / phenotype relationship	S.L. Thein (London)
10h00 - 10h30	ß- thalassaemia: Clinical findings - Thalassaemia major, intermedia - Complications and management - Main guidelines of treatment	M.D. Cappellini (Milan)
*10h30 - 11h00*	*Coffee break*
11h00 - 11h30	α- thalassaemia: Clinical findings - Genetic basis - Molecular aspects of disease - Genotype / phenotype relationships	D. Higgs (Oxford)
11h30 - 12h00	α- thalassaemia: other forms - ATRX syndromes - a thalassaemia associated with myelodysplasia	D. Higgs (Oxford)
12h00 - 12h30	Clinical cases of thalassaemia	A. Taher (Beirut)
*12h30 - 14h00*	*Lunch*
	Session II - Sickle Cell Disease: Clinical Aspects
14h00 - 14h30	Sickle Cell Disease (SCD) in the young - Clinical presentation - Clinical findings - Management	M. de Montalembert (Paris)
14h30 - 15h00	Sickle Cell Disease in the adult: - Emerging complications and management	S.L. Thein (London)
*15h00 - 15h30*	*Coffee break*
	Session III - Laboratory Diagnosis in Thalassaemia Syndromes
15h30 - 16h00	Methodologies and laboratory diagnosis -1 - Including: Basic methodology, standardization; The value of red cell indices, morphology, inclusion bodies, reticulocytes. - Separation and quantification of haemoglobin fractions	J.L. Vives-Corrons (Barcelona)
16h00 - 16h30	Methodologies and laboratory diagnosis -2 - Molecular biology	P. Aguilar-Martinez (Montpellier)
16h30 - 18h00	Interactive group discussions
	Group A. Clinical (Target: haematologists, paediatricians, trainees in haematology) - Discussion of patients with thalassaemia major - ß-thalassaemia: genetic combinations and modifiers - α-thalassaemia: genetic combinations and modifiers - Discussion on “Guidelines” for the diagnosis and treatment of thalassaemia syndromes	M.D. Cappellini (Milan) & M. Angastiniotis (Nicosia) & S.L. Thein (London) & A. Taher (Beirut)
	Group B. Laboratory aspects (Target: biologists, trainees in haematology) - Discussion on diagnosis strategy using biological cases - Comparison of various technologies, pitfalls - Recent methodological advances	J.L. Vives-Corrons (Barcelona) & P. Aguilar-Martinez (Montpellier) & B. Gulbis (Brussels)
Saturday, April 2, 2011
	Session IV - Abnormal Haemoglobins
08h30 - 09h00	Frequent haemoglobin variants: Hb C, Hb E, Hb D. - Epidemiology, clinical findings, compound heterozygosities	J. Elion (Paris)
09h00 - 09h30	Haemoglobins with abnormal functions: pathophysiology, clinical findings, complications, therapeutic management, haemoglobin with altered oxygen affinity, haemoglobins M or unstable	D. Loukopoulos (Athens)
09h30 - 10h00	Laboratory diagnosis of abnormal haemoglobins: - Phenotype: Sickling tests, solubility, oxygen affinity, electrophoresis and chromatography, peptide analysis, fingerprinting, mass spectrometry - Genotype: DNA studies	F. Cotton (Brussels)
*10h00 - 10h30*	*Coffee break*
	Session V - Thalassaemia and Sickle Cell Disease: complications and treatments
10h30 - 11h00	Thalassaemia and Sickle Cell Disease - Bone marrow transplantation	A. Ferster (Brussels)
11h00 - 11h30	Thalassaemia and Sickle Cell Disease - Emerging and novel therapies	Y. Beuzard (Paris)
11h30 - 12h00	Thalassaemia and Sickle Cell Disease: Iron Overload - Pathophysiology, evaluation of iron overload (ferritin, biopsy, MRI), chelation	J. Porter (London)
12h00 - 12h30	Clinical cases of Sickle Cell Disease	S.L. Thein (London) & J. Porter (London)
*12h30 - 14h00*	*Lunch*
	Session VI - Epidemiology of Haemoglobin Disorders
14h00 - 14h30	Prevention of Thalassaemia and Sickle Cell Disease: Neonatal screening, epidemiological surveys	B. Gulbis (Brussels)
14h30 - 15h00	Prevention of Thalassaemia and Sickle Cell Disease: Antenatal diagnosis and pre-implantation diagnosis - Methodology, evaluation of results	J. Traeger-Synodinos (Athens)
15h00 - 15h30	An updated epidemiological report on thalassaemia: a Thalassaemia International Federation Project	A. Eleftheriou (Nicosia)
*15h30 - 16h00*	*Coffee Break*
16h00 - 17h00	Interactive group discussions
	Group A. Clinical - Discussion of patients with sickle cell syndromes - Discussion and comments regarding the exiting guidelines for the treatment of sickle cell disease	S.L. Thein (London) & J. Porter (London) & M. Angastiniotis (Nicosia)
	Group B. Laboratory aspects - Discussion on methodologies for the diagnosis of abnormal haemoglobins, comparison of methods, pitfalls, recent methodological advances - Illustration by biological cases	B. Gulbis (Brussels) & P. Aguilar-Martinez (Montpellier) & J.L. Vives-Corrons (Barcelona)
17h00 - 17h30	Keynote lecture: Expression of haemoglobin genes in 2011	D. Higgs (Oxford)
17h30	End of the course

ESH-Enerca in assoc. with TIF Training Course on HAEMOGLOBIN DISORDERS

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