THALASSEMIA PREVENTION STRATEGIES Dimitris Loukopoulos MD University of

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 ο ο Assessment of the quality and cost of therapy Census of patients ο Assessment of available and functioning hopitals and attached day care Units Assessment of the quality of life of the patients Patients cannot be fully effective; often absent from school or work. 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 24 th week cannot impose it Christian Catholic The Church The Law Islam favorable* cannot impose it The Church and the Law favorable* The Law negative, but does not interfere allowed before 24 th 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 (Na. Cl 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 Hb. S/ 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 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 (46. 2%) 63 (20. 3%) 86 (27. 7%) 18 ( 5. 8%)