WP 4, 5, 6 August 2010
European survey: facilities for patients with rare and very rare
anaemias
Name:
Job Title:
Institution:
Department :
Address:
Zip code:
City:
Country:
Phone Number:
Fax No.:
Website:
SECTION 1 – FACILITIES FOR SICKLE CELL DISORDERS AND
THALASSAEMIAS
 Not concerned by this part of the questionnaire
With regard to sickle cell disorders and thalassaemias, do you consider your centre
to be:
 A reference centre
 A general centre
In your country, do reference centres exist (either within a framework of a national
policy on rare diseases, or outside national policy)?
 Yes for haemoglobinopathies
 Yes for very rare anaemias, please specify: ……………………………
 No
Is your centre part of a rare disease national network?
 Yes
 No
Type of patients followed (please tick all that apply):
 Children to age 18
 Adults
 Children and adults
 Out-patients
 In-patients
 Out- and in-patients
 Patients from your City or Region only
 Patients from your country
 Patients from other countries (please specify)
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WP 4, 5, 6 August 2010
Clinic: Average number of patients followed annually:
children
______ / year
adults
______ / year
Total Registered patients: Sickle Cell Syndromes: ___________________
Thalassaemia Syndromes: ________________
Diagnosis centres: Average number of specimen received:
For care
For advice
______ / year
______ / year (confirmation or final diagnosis after first line tests
obtained in another centre)
Phenotype
Genotype
______ / year
______ / year
THE EXPERTISE COVERED IN YOUR CENTRE
(Please tick all that apply)



The areas of expertise not covered in our centre are available in other
expert centres
A close collaboration exists with those centres
No collaboration exists with other centres
1. Diagnosis – prevention









Phenotypic diagnosis of Haemoglobin Disorders
Genotypic diagnosis of Haemoglobin Disorders
Neonatal screening
 Local
 National
Antenatal screening
Pre-marital screening
 Local
 National
Genetic counselling
Pre-natal diagnosis
Pre-implantation diagnosis
Participation to an external quality control (QC)
o Phenotype, name of the external QC: ……………………………….
o Genotype, name of the external QC: ……………………………….
2. Follow-up/case management
Acute events - Special services in your centre
Does the centre have staff with specific expertise in dealing with acute events
of Haemoglobin disorders (e.g. pain control, stroke)?
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WP 4, 5, 6 August 2010


Yes
No
Allocated beds:
 Day unit
 Hospital
 Day unit and hospital
Trained, dedicated staff:
Nurses
 Medical doctors
 Psychologist
 Neurosurgical unit
 Imaging staff

Blood transfusions:
Do you perform an extended immuno-phenotype (beyond ABO and D)?
 Yes
 No
Do you have access to donor red blood cell units with rare phenotypes
 Yes
 No
Do you have:
 Access to exchange blood transfusion (trained staff)
 24-hour service
3. Follow-up/case management
Chronic events – special services in your centre
Does the centre have staff experienced in monitoring, preventing and dealing
with chronic complications of Haemoglobin disorders?
 Yes
 No
Please tick the areas of case monitoring/follow-up that are offered by your
centre (for early/timely detection of the following):
 Chronic pain
 Stroke (prevention), please give an example _____________________
 Stroke (care)
 Leg ulcer
 Osteonecrosis
 Bone disease (e.g. osteoporosis)
 Chronic renal disease
 Pulmonary disease please give an example _____________________
 Cardiac disease
 Eye complications
 Hearing complications
 Liver complications
 Growth
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WP 4, 5, 6 August 2010





Endocrine complications
Pregnancy
Contraception - fertility
Iron overload please give an example………………………………………
Psychological support
Are patients monitored by specialists in:
 Cardiology?
 Liver disorders?
 Endocrinology?
 Other? (please specify)………………………………………………………
CRITERIA OF EXPERTISE IN YOUR CENTRE
1. Availability of specialised services, able to deal with SCD/thalassaemia
complications (please tick all that apply):









Intensive care unit
 Trained in sickle-related organ damage and multiple organ
damage
Transcranial echo-doppler
MRI
Angio MRI
CT
Angiofluorography
Audiometry
Assessment of cardiac iron by T2* MRI
Measurement of liver iron concentration:
 Biopsy
 MRI
 SQUID
2. Availability of treatments:




Stem cell transplantation
Hydroxyurea
Iron chelation
Transfusions
 With rare blood phenotype
 Blood bank
 Exchange transfusion
 Automated
 Manual
3. Availability of patient services:



Psychology services
Link with education services (i.e. coordinating with school for educational
problems)
Link with other social services (e.g. employment, social security)
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WP 4, 5, 6 August 2010

Link with patients’ associations
4. Availability of decision support (guidelines)















Available electronically for patients
Available electronically for health professionals
Available in booklet form for patients
Available in booklet form for health professionals
Standard follow-up of patients with very rare anaemias
 Children
 Adults
Management of chronic pain
Management of chronic complications
Acute blood transfusions management
Chronic blood transfusions management
Management of pregnancy
Pre- and peri-operative surgery management
Criteria for hospitalisation
Diagnosis of complications
Treatment of complications
Pain management
5. Availability of registries:




Epidemiological surveillance
Long term follow up for clinical care and decision making
Collection of material for research and teaching
Clinical research
6. Link with research:



Yes
Occasional
No
7. High level of expertise and experience documented:



Through publications
Grants
Teaching and training activities
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WP 4, 5, 6 August 2010
SECTION 2 – FACILITIES FOR VERY RARE ANAEMIAS:
 Not concerned by this part of the questionnaire
Or by:
 Red blood cell membrane disorders
 Red blood cell enzyme disorders
 Congenital Dyserythropoietic Anaemia (CDA)
 Diamond Blackfan Anaemia (DBA)
 Paroxysmal Nocturnal Haemoglobinuria (PNH)
 Hereditary Sideroblastic Anaemia (HSA)
 Very rare anemias due to defective iron utilization
With regard to very rare anaemias, do you consider your centre to be:
 A reference centre
 A general centre
In your country, do reference centres exist (either within a framework of a national
policy on rare diseases, or outside national policy)?
 Yes
 No
Is your centre part of a rare disease national network?
 Yes
 No
Type of patients followed (please tick all that apply):
 Children to age 18
 Adults
 Children and adults
 Out-patients
 In-patients
 Out- and in-patients
 Patients from your City or Region only
 Patients from your country
 Patients from other countries (please specify)
Clinic: Average number of patients followed annually:
children
______ / year
adults
______ / year
Total registered patients with:
Red blood cell membrane disorders: ________________
Red blood cell enzyme disorders: ________________
CDA: ________________
DBA: ________________
PNH: ________________
HSA: ________________
Very rare anemias due to defective iron utilization: ________________
Other Anaemias (please specifiy): ________________________
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WP 4, 5, 6 August 2010
Diagnosis centres: Average number of specimen received:
For care
For advice
______ / year
______ / year (confirmation or final diagnosis after first line tests
obtained in another centre)
Phenotype
Genotype
______ / year
______ / year
THE EXPERTISE COVERED IN YOUR CENTRE
(Please tick all that apply)



The areas of expertise not covered in our centre are available in other
expert centres
A close collaboration exists with those centres
No collaboration exists with other centres
4. Diagnosis – prevention




Genetic counselling, please specify……………………………………………
Pre-natal diagnosis, please specify……………………………………………
Pre-implantation diagnosis, please specify…………………………………..
Participation to an external quality control (QC)
o Phenotype, name of the external QC: ……………………………….
o Genotype, name of the external QC: ……………………………….
5. Follow-up/case management
Acute events - Special services in your centre
Does the centre have staff with specific expertise in dealing with acute events
of very rare anaemias (e.g. consequences of iron overload, hemolytic crises,
aplastic crises)?
 Yes
 No
Allocated beds:
 Day unit
 Hospital
 Day unit and hospital
Trained, dedicated staff:
 Nurses
 Medical doctors
 Psychologist
 Imaging staff
7
WP 4, 5, 6 August 2010
Blood transfusions:
Do you perform an extended immuno-phenotype (beyond ABO and D)?
 Yes
 No
Do you have access to donor red blood cell units with rare phenotypes
 Yes
 No
Do you have:
 Access to exchange blood transfusion (trained staff)
 24-hour service
6. Follow-up/case management
Chronic events – special services in your centre
Does the centre have staff experienced in monitoring, preventing and dealing
with chronic complications of very rare anaemias?
 Yes
 No
Please tick the areas of case monitoring/follow-up that are offered by your
centre:
 Leg ulcer
 Osteonecrosis
 Bone disease (e.g. osteoporosis)
 Chronic renal disease
 Pulmonary disease
 Cardiac disease
 Eye complications
 Hearing complications
 Liver complications
 Growth
 Endocrine complications
 Pregnancy
 Contraception - fertility
 Iron overload, please give an example……………………………………
 Psychological support
 Other, please specify
Are patients monitored by specialists in:
 Cardiology?
 Liver disorders?
 Endocrinology?
 Other? (please specify) ………………………………………………………
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WP 4, 5, 6 August 2010
CRITERIA OF EXPERTISE IN YOUR CENTRE
8. Availability of specialised services, able to deal with complications of
very rare anaemias (please tick all that apply):






Intensive care unit
MRI
CT
Audiometry
Assessment of cardiac iron by T2* MRI
Measurement of liver iron concentration:
 Biopsy
 MRI
 SQUID
9. Availability of treatments:




Stem cell transplantation
Iron chelation
Phlebotomy
Transfusions
 With rare blood phenotype
 Exchange transfusion
 Automated
 Manual
10. Availability of patient services:




Psychology services
Link with education services (i.e. coordinating with school for educational
problems)
Link with other social services (e.g. employment, social security)
Link with patients’ associations
11. Availability of decision support (guidelines)














Available electronically for patients
Available electronically for health professionals
Available in booklet form for patients
Available in booklet form for health professionals
Standard follow-up of patients with very rare anaemias
 Children
 Adults
Management of chronic pain
Management of chronic complications
Acute blood transfusions management
Chronic blood transfusions management
Management of pregnancy
Pre- and peri-operative surgery management
Criteria for hospitalisation
Diagnosis of complications
Treatment of complications
9
WP 4, 5, 6 August 2010


Pain management
Pre- and peri-operative surgery management
12. Availability of registries:




Epidemiological surveillance
Long term follow up for clinical care and decision making
Collection of material for research and teaching
Clinical research
13. Link with research:



Yes
Occasional
No
14. High level of expertise and experience documented:



Through publications
Grants
Teaching and training activities
15. Free additional comments:
Thank you very much for your collaboration
10
WP 4, 5, 6 August 2010
The completed questionnaire can be returned by mail, e-mail, or fax, to either directly
to ENERCA via Prof Gulbis or to Dr Percy (UK contact person)
Prof Béatrice Gulbis, MD PhD
Head, Department of Clinical Laboratories
Hôpital Erasme -U.L.B.
Route de Lennik 808
B- 1070 Brussels
Tel +32 2 555 34 28
Fax +32 2 555 66 55
E-mail: Beatrice.Gulbis@erasme.ulb.ac.be
Dr Melanie J Percy, PhD, FRCPath,
Department of Haematology,
C Floor, Tower Block,
Belfast City Hospital,
Lisburn Road,
Belfast BT9 7AB,
Northern Ireland, UK
Tel: + 44 (0)28-9026-3097 or 9026-3225
Fax: + 44 (0)28-9026-3870
Email: melanie.percy@belfasttrust.hscni.net
11