ESH Video

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

ESH-Enerca in assoc. with TIF Training Course on HAEMOGLOBIN DISORDERS
April 01 - April 02, 2011 - Brussels, Belgium
Chairs :


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.


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
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

16h00 - 16h30

Methodologies and laboratory diagnosis -2
- Molecular biology

P. Aguilar-Martinez
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

Abstract submission




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