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Deliverable D16.2: Report on the course on Haemoglobin disorders:  

Laboratory diagnosis and clinical management 

 

Executive summary 

Project number: 2008 12 10 

Project Acronym: ENERCA 3 

Title: European Reference Network of Expert Centres in Rare Anaemias 

Deliverable: D16.2 

Delivery Date: May 2011 

Short description: 

This deliverable D16.2 has been developed under WP3 “Education and Training “. It aims 

at  reporting  the  activities  developed  on  course  2  “Haemoglobin  disorders:  Laboratory 

diagnosis and clinical management”. The report  includes an  introduction of the WP with 

its  tasks,  the  programme  of  the  course,  a  summary  report,  abstracts  of  the  talks, 

educational material and conclusions.   

Responsible partner:  CHUM 

Partners contributed: ERASME, ESH and TIF 

 

Made available to: Internal and ENERCA website

PROJECT ENERCA 3 Workpackage 3: Education & training

Deliverable 16.2 Author: Patricia Aguilar Martinez, WP3 leader

Report on course 2

C O U R S E 2 - E D U C A T I O N & T R A I N I N G

Training Course on Haemoglobin Disorders:

Laboratory diagnosis and clinical management

© copyright ENERCA 2011

Table of content

Introduction .................................................................................................................................. 1 Work package n° 3: Education and training ........................................................................................... 2

WP3: Tasks ............................................................................................................................................ 3

WP3: Courses .......................................................................................................................................... 3

Organization of the course ........................................................................................................... 4 Organization ............................................................................................................................................ 4

Place and dates ......................................................................................................................................... 5

Program of the course ................................................................................................................................ 5

Promotion & preparation of the course ..................................................................................................... 7

Collaborations & Co-sponsorship ........................................................................................................... 10

ENERCA3 Course 2 ................................................................................................................... 11 Training Course on "Haemoglobin Disorders: Laboratory diagnosis and clinical management” ............... 11

Evaluation of the course: ......................................................................................................................... 12

CME credits: ......................................................................................................................................... 12

Educational material .................................................................................................................. 13 Abstract book ........................................................................................................................................ 13

Webcast of the course .............................................................................................................................. 14

Conclusion ................................................................................................................................... 15

Acknowledgements ..................................................................................................................... 16

Annexes ........................................................................................................................................ 17

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Introduction

NERCA Workpackage 3 (WP3) is responsible for the organization of educational activities, comprising three courses on rare anemias (RA). This report gives the details of the organization of the second ENERCA course held in April 2011 in Brussels (Belgium).

WP3 consists in four associated partners (WP leader CHUM) and five collaborating partners. All the other ENERCA WPs also contribute to the educational activities.

For this specific course, the main workpackage partners were WP4 on Sickle Cell Disorders (WP leader: ERASME) and WP5 on Thalassaemia (WP leader TIF).

Local organization was greatly facilitated by ERASME (Pr B Gulbis).

Chapter

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E W P 3 P A R N E R S

WP Leader: CHUM Associated partners: ESH KINGS CHC Other WPs UNIMILANO UKNEQAS ERASME UNISR TIF UULM UMCU Collaborating partners: WHO IUH BRF ITHANET UMFVB

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Work package n° 3: Education and training

-- GGeenneerraall WWPP oobbjjeeccttiivveess::

OBJ 2: To promote harmonization of procedures for diagnosis, treatment and follow-up of patients for rare anaemias (RA)

OBJ 4: To improve continuing medical education in order to insure the provision of the highest quality services for patients with RA.

OBJ 5: To increase patients and public awareness about RA.

-- SSppeecciiffiicc WWPP oobbjjeeccttiivvee((ss))::

To disseminate harmonized comprehensive up-to-date knowledge on rare anemias (RA) to European health professionals, practitioners and patients by establishing close collaborative links with recognized European organizations with professional education and training activities.

European School of Haematology (ESH): co-organization of meetings on training in diagnostic procedures (haematology laboratory specialization) and clinical care of patients with RA. ENERCA will also be associated with ESH training courses also in the field of the rare disorders related to iron metabolism.

European Haematology Association (EHA): participation in the EHA congresses and annual meetings by organizing satellite symposia in collaboration with the "red cell metabolism and its disorders" scientific working group. This will facilitate the involvement of large number of young European haematologists in the diagnosis and treatment of rare anaemia.

World Health Organization (WHO): establishment of a close collaboration with the WHO programme of Human Genetics and other issues involving rare anaemia in Europe, in order to develop joint documents, reports and recommendations for the prevention, diagnosis and treatment of these diseases throughout Europe, especially for the less economically developed and new incoming EU members.

National Societies of Haematology Biochemistry or Paediatrics will be also directly implicated in Education and Training activities developed by ENERCA in each EU country.

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WP3: Tasks

Task 1. Courses for Continuing Medical Education and Training (Organization ESH, CHUM, partners involved (elaboration of the program, course and diffusion): KINGS, HC, UNIMILANO, UKNEQAS, ERASME, UNISR, TIF, UULM, UMC, advice and diffusion: WHO, IUH, BRF, ITHANET, UMFVB.

The main objective of these courses is to promote harmonization of procedures for diagnosis, treatment and follow‐up of patients with RA.  

WP3: Courses

1.1. Courses with emphasis on clinical management:

Course 1 - Red cell and iron disorders (co-organized with the ESH)

Target groups: haematologists, paediatricians, and medical students in specialization for haematology

Main objective: promoting harmonization of procedures for diagnosis, treatment and clinical follow-up of patients with red cell and iron disorders.

This course was held in Portugal in April 2010.

1.1. Courses with emphasis on biology and diagnosis (organized with the ESH)

Course 2 – Thalassaemia and other Haemoglobin disorders

The present report concerns this course.

Course 3 – (Very) Rare red cell disorders: Diagnosis of red blood cell membrane disorders and congenital dyserythropoietic anemia (CDA), red blood cell enzymopathies & other rare red cell disorders (organized with the ESH)

This course is scheduled to take place in Paris in February 2012.

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Organization of the course

Organization

he program of this course was elaborated by the chairpersons (who are all ENERCA3 partners).

The European School of Hematology (ESH) was responsible for the practical organization of the course.

ENERCA3 Workpackages 3 (education and training), 4 (Public health issues and management of patients with Sickle Cell Disorders) and 5 (Public health issues and management of patients with Thalassaemia) were responsible of the scientific organization of this course in the ENERCA3 project.

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C H A I R P E R S O N S C O U R S E 2 Béatrice GULBIS……… WP4 Swee Lay THEIN…….. WP3 Dimitris LOUKOPOULOS….. WP3 Yves BEUZARD..…… WP3 Patricia AGUILAR MARTINEZ…. WP3

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Place and dates

The course took place in Brussels (Belgium) in April 1st-2nd 2011 in the "Musée de la médecine" at Erasme Hospital (http://medicmuseum.be/). The organizational aspects of the course were ensured by ESH.

Program of the course

FFrriiddaayy,, AApprriill 11,, 22001111

SSeessssiioonn II -- TThhaallaassssaaeemmiiaass CClliinniiccaall aanndd MMoolleeccuullaarr AAssppeeccttss

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, molecular defects genotype / phenotype relationship

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 (Oxforf)

12h00 - 12h30 Clinical cases of thalassaemia (with voting boxes) A. Taher (Beirut)

12h30 - 14h00 Lunch

SSeessssiioonn IIII -- SSiicckkllee CCeellll DDiisseeaassee:: CClliinniiccaall AAssppeeccttss

14h00 - 14h30 Sickle Cell Disease (SCD) in the young:- Clinical presentation, clinical finding, 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

SSeessssiioonn IIIIII -- LLaabboorraattoorryy DDiiaaggnnoossiiss iinn TThhaallaassssaaeemmiiaa SSyynnddrroommeess

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)

1166hh3300 -- 1188hh0000 IInntteerraaccttiivvee ggrroouupp ddiissccuussssiioonnss

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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. Capellini (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

SSeessssiioonn IIVV -- AAbbnnoorrmmaall HHaaeemmoogglloobbiinnss

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

SSeessssiioonn VV -- TThhaallaassssaaeemmiiaa aanndd SSiicckkllee CCeellll DDiisseeaassee:: ccoommpplliiccaattiioonnss aanndd ttrreeaattmmeennttss

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- Pathophysiology, evaluation of iron overload (ferritin, biopsy, MRI), chelation

J. Porter (London)

12h00 - 12h30 Clinical cases of Sickle Cell Disease (with voting boxes) S.L. Thein (London) &J. Porter (London)

12h30 - 14h00 Lunch

SSeessssiioonn VVII -- EEppiiddeemmiioollooggyy ooff HHaaeemmoogglloobbiinn DDiissoorrddeerrss

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-Synadinos (Athens)

15h00 - 15h30 Epidemiology and prevention programmes on thalassaemia and sickle cell disease

A. Eleftheriou (Nicosia)

15h30 - 16h00 Coffee Break

1166hh0000 -- 1177hh0000 IInntteerraaccttiivvee ggrroouupp ddiissccuussssiioonnss

Group A. Clinical - Discussion of patients with sickle cell syndromes

S.L. Thein (London) &J. Porter (London) & M. Angastiniotis (Nicosia)

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- Discussion and comments regarding the exiting guidelines for the treatment of sickle cell disease

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

Promotion & preparation of the course

The course was announced via various mechanisms.

General organization by the ESH: advertising at numerous European and international meetings (Fig 1 and 2) and circulation of information about the course throughout the extensive international ESH electronic database. Registration of participants, pre-course coordination and organization, and on-site management, arrangement of speakers' travel and accommodation, teaching material…

Presentation of the program on the ESH and ENERCA websites.

Flyers and leaflets presented at different meetings (Fig 1 and 2)

Circulation of information about the course to all ENERCA partners and by ENERCA partners to their respective national scientific societies (Italy, Portugal, UK, Germany, Belgium, France, etc).

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FIGURE 1. Poster produced by ESH to advertise the Course

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FIGURE 2. Leaflet elaborated by ESH to advertise the Course

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Collaborations & Co-sponsorship

This course was partially funded by the ENERCA3 grant from the European Commission. Collaborations and co-sponsorship were thus necessary in order to cover the cost of the course.

The organising committee is particularly grateful to Pr Béatrice Gulbis, the local organiser, for invaluable help. The "Club du globule rouge et du Fer" (French scientific society on red cell disorders), provided travel grants to some of the participants to help them attending the course.

We also warmly thank the company that provided unrestricted educational grant in support of this meeting, namely Addmedica as well as our conference partners, Biorad, Sebia and Apopharma.

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ENERCA3 Course 2

Training Course on "Haemoglobin Disorders: Laboratory diagnosis and clinical management”

he ENERCA-ESH training course on “Haemoglobin Disorders: Laboratory diagnosis and clinical management” took place in Brussels, Belgium, on April 1-2, 2011, in the Museum of medicine at Erasme hospital. One hundred and seventy participants from 29 different

countries attended the course. It is noteworthy that the organization team had to stop accepting registrations at least one month before the course, because the maximum number of participants (100-150) and the capacity of the meeting rooms were exceeded. The course was developed to provide state of the art knowledge on haemoglobin disorders as well as practical data for clinicians or biologists who diagnose and/or care for patients with these disorders. Scientific sessions alternated with the presentation of clinical cases by experts. Main topics included thalassemia, sickle cell disorders and other abnormal haemoglobins. Specific sessions were devoted to epidemiology and treatments, including iron chelation, bone marrow transplantation and gene therapy. The organizers deliberately promoted interaction between the participants and between participants and speakers, notably via interactive clinical case presentation sessions and the use of voting boxes. Plenty of time was also allocated to general discussion. Furthermore, the program included small, clinical and biological group discussions on specific themes. These sessions were designed to promote informal discussion and interaction. Participants were invited to opt to attend either the clinical or the biological group discussions, according to their main interest. Before the meeting, participants were invited to submit clinical cases or biological abstracts. Selected cases and abstracts were presented by their authors during the meeting and were the object of general discussion led by an expert. This active learning approach proved appreciated and effective.

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Thanks to this course, several new advances and ideas are now available to the ENERCA members and to people interested in the field of haemoglobin disorders in Europe.

Evaluation of the course:

Evaluation sheets were distributed to all participants. Based on ninety-nine evaluation sheets, 91% of participants gave a positive or very positive evaluation of the course. Participants especially highlighted the interest of the program topics and the high level of the speakers. They appreciated the voting box sessions and the fact that laboratory aspects received special attention during the course. A few complained that the meeting room was too full and warm; this relates to the unexpected high number of attendees.

CME credits:

Course participants are eligible to receive 13 European Hematology Continuing Medical Education (CME) Credit Points. EHA-CME Credit Points can be claimed through the EHA website at www.ehaweb.org, on the "CME" link.

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Educational material Educational material used for this course included:

Abstract book

t contains abstracts of presentations accompanied by a selected bibliography. It also provides the name, address and e-mails of all invited speakers and participants in order to promote continuing scientific interaction during and after the meeting. Abstracts of the clinical cases submitted by the participants and discussed during the interactive sessions

are also included.

The abstract book is given in Annex 1

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EE DD UU CC AA TT II OO NN AA LL MM AA TT EE RR II AA LL

The abstract book of the course distributed to all participants

A webcast of the course (available on the ESH and ENERCA

websites at: http://www.multiwebcast.com/esh/2011/enerca/)

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Webcast of the course

All the oral presentations were video recorded by a professional team and the approved presentation have been published in the ESH and ENERCA websites at the following addresses: http://www.multiwebcast.com/esh/2011/enerca/ or http://www.enerca.org/activities-news/.

Figure 3.: Screen print of the website page giving access to the webcasted presentations

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Conclusion

ourse 2 was a successful scientific and educational event. The objectives of the ENERCA3 courses have been achieved and continuing dissemination of the educational materials through various means (abstract book, websites) will promote ongoing dissemination and contribute to update the knowledge of European health

professionals.

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Acknowledgements We would like to acknowledge all the people who helped to prepare, promote and conduct this course.

Among these, chairpersons (WP3, WP4 and WP5 members), all the ESH staff, all WP3 partners, ENERCA3 WP leaders who gave advice and helped diffusing the announcement of the course, ENERCA3 coordination team and ENERCA3 project leader, Prof Joan Lluis Vives Corrons, as well as CHUM staff members.

We also warmly thank Sponsors and the European Commission grant N°.2008 12 10.

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Annexes Annex 1: Abstract book of the training course