THALASSEMIA : PREVENTION STRATEGIES
Dimitris Loukopoulos, MD
University of Athens, Greece
G U I D E L I N E S FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
The role of the Authorities
The role of the Associations of parents and patients
The role of Mass Media
The role of the Church
The role of the School
In immigrant groups of ethnic minorities : The role of
social workers talking the national language
Sensitization was broader in the past because patients with marked bone
deformities were difficult to miss in public life and their problems were
more known to the Society. AT THIS TIME, sensitization is weak because
if improved treatment and decrease of the number of new patients.
THEREFORE, public sensitization must be taken over by the
Mass Media and School
GUIDELINES FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
Convincing the Authorities
Assessment of the quality and cost of therapy
ο Census of patients
ο Assessment of available and functioning hopitals
and attached day care Units
ο Assessment of the quality of life of the patients
ο Patients cannot be fully effective;
often absent from school or work.
ο Families are equally involved and waste lots of time
(hence, lose day-pays) in order to take care or tranfer
the sick children to hospital etc.
Financial aspects
o Assessment of the frequency of heterozygotes;
o Identification of foci with high frequency
(selection of methodology)
o Evaluation of present and
o Projection of costs in the years to come
GUIDELINES FOR THE CONTROL OF THALASSEMIA AND
SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
The Associations of parents and patients
ο May also exert a significant influence on the policy makers
in the sense that effective prevention of the birth of new
patients, the available resources will be directed
towards improving management of their own surviving
children
G U I D E L I N E S FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
The role of the Authorities
The role of the Associations of parents and patients
The role of Mass Media
The role of the Church
The role of the School
In immigrant groups of ethnic minorities : The role of
social workers talking the national language
Sensitization was broader in the past because patients with marked bone
deformities were difficult to miss in public life and their problems were
more known to the Society. AT THIS TIME, sensitization is weak because
if improved treatment and decrease of the number of new patients.
THEREFORE, public sensitization must be taken over by the
Mass Media and School
G U I D E L I N E S FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
The role of the Authorities
The role of the Associations of parents and patients
The role of Mass Media
The role of the Church
The role of the School
In immigrant groups of ethnic minorities : The role of
social workers talking the national language
Sensitization was broader in the past because patients with marked bone
deformities were difficult to miss in public life and their problems were
more known to the Society. AT THIS TIME, sensitization is weak because
if improved treatment and decrease of the number of new patients.
THEREFORE, public sensitization must be taken over by the
Mass Media and School
FORMAL POSITION OF THE CHURCH AND THE LAW
TOWARDS PREVENTION OF INHERITABLE DISEASE
An important but delicate matter. The information further
below is not a recommendation.
Religion/Authorities
Christian Orthodox.
Attitude towards
Prevention
Prenatal Diagnosis
The Church
The Law
favorable*
negative, but does not interfere
in the sense that this may
avoid children or change partner
favorable;*
allowed before 24th week
cannot impose it
Christian Catholic
The Church
The Law
Islam
favorable*
favorable*
cannot impose it
The Church and the Law favorable*
The Law
negative, but does not interfere
allowed before 24th week
fully negative in past years
now accepted in some countries,
ignored or prohibited in others
G U I D E L I N E S FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
SENSITIZATION, INFORMATION AND EDUCATION OF THE
POPULATION AT RISK
The role of the Authorities
The role of the Associations of parents and patients
The role of Mass Media
The role of the Church
The role of the School
In immigrant groups of ethnic minorities : The role of
social workers talking the national language
Sensitization was broader in the past because patients with marked bone
deformities were difficult to miss in public life and their problems were
more known to the Society. AT THIS TIME, sensitization is weak because
if improved treatment and decrease of the number of new patients.
THEREFORE, public sensitization must be taken over by the
Mass Media and School
G U I D E L I N E S FOR THE CONTROL OF THALASSEMIA
AND SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
CARRIER IDENTIFICATION
Select optimal methodology; one tube (NaCl 0.45%) (ampul with
prepared solution) osmotic fragility testing to identify suspect carriers
for large areas with low frequency up to complete blood counts and Hb
electrophoresis also as a service in high frequency areas; consider
incidence and cost
Ensure quality control of both field and central laboratory techniques
Offer carrier identification on free hours and free of charge
Reply consistently to persons reporting for the tests. Explain
GENETIC COUNCELLING
Invite and advise in person carriers whose partner is also a carrier
Avoid forcing couples at risk to decide. Instead, provide ample
information.
Explain thoroughly the possibilities and limitations of prenatal
diagnosis
GUIDELINES FOR THE CONTROL OF THALASSEMIA AND SICKLE
CELL DISEASE IN AREAS WITH HIGH FREQUENCY
PRENATAL DIAGNOSIS
Legal and Ethical Aspects
Financial aspects; insurance of patients
(who pays for the test?
who pays if the test is not carried out?
who pays if a misdiagnosis occurs?)
Follow-up and Psychologic support of mothers,
especially in case of bad results
Fear
Feelings of being guilty,taking too much responsibility
Influence of family
Feelings of being guilty towards surviving affected
child
Continuous Quality Control and Monitoring !
GUIDELINES FOR THE CONTROL OF THALASSEMIA AND
SICKLE CELL DISEASE IN AREAS WITH HIGH FREQUENCY
MONITORING; QUALITY CONTROL
Mandatory reporting of all new cases reporting to
hospitals for vasoocclusive crises or in need for
transfusion
Internal control of techniques
“External” quality control; private laboratories;
academic laboratories
Frequent re-evaluation of cost; staff
automation
novel techniques
The importance of monitoring
Births of children with inherited hemoglobin disorders
in Greece from 2000 to 2010 ; A collection of data from 43
Units or Clinics taking care of thalassemia patients dispersed all over
Greece; the National Registry
(Voskaridou et al, 2012)
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
Thalassemia
major
10
10
14
16
12
7
5
7
4
2
1
Thalassemia
intermedia
1
1
1
4
5
3
3
4
0
0
0
Hemoglobin H
5
0
4
2
3
3
1
1
3
0
0
HbS/
β-thalassemia
3
5
3
3
3
2
4
1
2
0
0
Sickle cell disease
3
2
1
1
2
3
1
0
1
1
0
Not specified
0
0
0
0
0
0
0
0
2
2
1
22
18
23
26
25
18
14
13
12
5
2
Total
Births of children with inherited hemoglobin disorders in
Greece. Data obtained from the major Greek Pediatric
Hospitals (1980 to 2009)
(Ladis et al, 2012)
1980-1984
1985-1989
1990-1994
1995-1999
2000-2004
2005-2209
Thalassemia
major
173
72
55
35
32
20
Sickle cell
disease
62
39
17
20
16
19
T o t a l
235
111
72
55
48
39
Births of children with inherited hemoglobin disorders in Greece (2000 to
2010)
Main causes for missing or avoiding diagnosis
(Voskaridou et al, 2012)
Lack of medical care due to financial reasons or low educational level;
mostly migrant workers (27%) and Roma (7%).
Negligance of obstetricians to inform and guide the couple to carrier testing.
Late arrival of the couple (23%)
Religious reasons; parents opposite to abortion regardless of diagnosis (13%)
Social reasons ; parents opposite to prenatal testing for reasons unrelated to
religion (13%)
Laboratory Errors. In carrier identification as well as in prenatal diagnosis
Inadequate or incorrect genetic counseling (13%)
A unique case of in vitro fertilization using a thal-carrier sperm
Births of children with inherited hemoglobin disorders in
Greece. Data obtained from the major Greek Pediatric
Hospitals (1980 to 2009)
(Ladis et al, 2012)
Reasons for missed diagnosis or avoidance of prenatal testing;
on a total of 560 cases (387 TM and 173 SCD)
Unawareness
289 (51.6%)
“Failure of the program” 161 ( 28.8%)
No-identification of the carrier state
Error in prenatal diagnosis
Incorrect genetic advice
Error in IVF
Parental Choice
78
(13.9%)
Miscellaneous
32
( 5.7%)
144
63
86
18
(46.2%)
(20.3%)
(27.7%)
( 5.8%)