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Thalassaemia in Sri Lanka; 
Prevalence and Prevention
     l       d         i

    Rasnayaka M Mudiyanse
              M Mudiyanse
Country  Sri Lanka
             Country – Sri Lanka
• Size – 65 610 km2
• Population – 20 653 million
• Per capita income 2399 USD
  Per capita income 2399 USD
• Nine province 25 Districts  Grama Seva divisions 
  one officer per 500 – 1000 f ili
        ffi       500 1000 families 
• Nine Provincial Directorates of Health  291 Medical 
  Officer of Health (MOH) 43 PHM per 100 000 
  population 
• Total Births (2010) ‐ 364 565
• Total Marriages (2010) ‐ 200 985
  Total Marriages (2010)  200 985
Country  Sri Lanka
            Country – Sri Lanka
•   Life expectancy – M‐68.1, F ‐76.6 yrs 
    Life expectancy – M 68 1 F 76 6 yrs
•   Literacy ratio ‐ 92%. 
           y
•   Vaccination coverage  ‐ 90%. 
•   CMR – 10.4 per 1000 live births
•   IMR – 8.5 per 1000 live births
    IMR 8 5 per 1000 live births
•   NMR  ‐ 5.9 per 1000 live births 
                p
•   MMR ‐ 14.2 per 100 000 births
History of Thalassaemia in Sri Lanka
   History of Thalassaemia in Sri Lanka
• 1950 – four cases of Cooley’s anemia in 
             y
  Sinhalees by C C De Silva at el
• 1959 – 15 cases of HbE beta thalassaemia C C 
  De Silva and Nagarathnam 
  De Silva and Nagarathnam
• 1962 – Three families with Hb S 
• 1995 – 2011 – more advanced studies  
1. C. C. de SILVA and C. E. S. WEERATUNGE , COOLEY'S ANAEMIA IN SINHALESE 
1 C C d SILVA d C E S WEERATUNGE COOLEY'S ANAEMIA IN SINHALESE
CHILDREN , Achieves of disease of childhood 1950
2. N. SAHA and B. BANERJEE idence of Abnormal Haemoglobins in Different Ethnic 
Groups of Indians Humangenetik 11,300‐‐303 (1971)
G         f I di   H             tik 11 300 303 (1971)
3. C. C. DE SILVA, M.D., F.R.C.P. D. T. D. BULUGAHAPITIYA, M.B., B.S. JUSTIN DE SILVA 
SINHALESE FAMLY WITH HAEMOGLOBIN S BY BRITISH MEDICAL JOURNAL June 2 1962
Thalassaemia in Sri Lanka ‐ Prevalence 
                                              Sri Lanka                 Wayamba
 Beta thalassaemia                                2350                       220

 Hb E /b t th l
    E /beta thal..                                1060                       260

 Total number of pts
 Total number of pts                              3410                       480

 Gene frequency beta
      frequency beta                             0.011
                                                 0 011                     0.0125
                                                                           0 0125
 Gene frequency e bata                          0.0025                     0.0075
1. Anuja Premawardana, Life Sciences & Medicine, Human Molecular Genetics Volume13, 
Thalassemia in Sri Lanka: a progress report ,
2.
2 Shanthimala de Silva, Lancet 2000: 355: 786 91 Thalassaemia in Sri Lanka:
                     Silva                    786–91,
implications for the future health burden of Asian populations
National Survey on Prevalence of 
National Survey on Prevalence of
thalassaemia in Sri Lanka ‐ 2011
Objectives 
             Objectives
• To establish national prevalence data
•TTo evaluate the pattern of drugs 
        l t th       tt     fd
  usage by institution
  usage by institution
• To evaluate serum ferritin levels
• To predict the minimal incidence
Methodology
• Permission from the ministry of health SL
• Contacted all the institutions with facilities for 
  blood transfusion
• Collect data
  Collect data 
   –   Age or date of birth
   –   Sex
   –   Diagnosis (beta thalassaemia, E beta, HB S or other)
   –   Last ferritin level
   –   Amount of chalation drugs used by the institution 
                               g        y
Results 
                 Results
• Total number of institutions contacted –
  42 out of 81 
  42 out of 81
• Hospitals with at least one patient ‐19
• Total number of patients traced ‐ 1547
• Details available up to date – 1379 ( 11 
                                      (
  hospitals)
Evaluation of 1379 patients  
      Evaluation of 1379 patients
•   Male ‐ 668 (48.4%) 
•   Female ‐711 (51.6%)
    F     l 711 (51 6%)
•   beta thalassaemia – 926 (67.1%) 
    beta thalassaemia – 926 (67 1%)
•   e beta thalassaemia  305 (22.1%) 
    e beta thalassaemia ‐ 305 (22.1%)
•   Others – 148  ( 10.7%) 
Average age after evaluation of 1231 
               patients  
• Global average age ‐ 12.6 (SD 5.9) yrs
• Beta thalassaemia
  Beta thalassaemia 
  – male 11.9 ( SD 3.8) yrs
  – female 11.4 (SD 4.8) yrs 
• HbE/Beta thalassaemia
  HbE/Beta thalassaemia 
  – Male ‐ 5.3 (SD 6.0) yrs
  – Female 16.1 (SD 5.6) yrs.
Thalassaemia in Sri Lanka ‐ Prevalence 
                                  Lancet 2000              National survey 
                                                             2011 
                                                             2011 ‐ 2012
Beta thalassaemia                      2350                 1020 ( 64.8%)
Hb E /beta thal
     /                                 1060                 348 ( 22.1%)
                                                                (       )
Total patients
Total patients                         34 0
                                       3410                         1574 
                                                                     574
Gene frequency                       0.011                       0.0073
Beta
B t                                (CR 2 2%)
                                        2.2%)                ( C.R. – 1.45%)
                                                             ( C R 1 45%)
Gene frequency E                    0.0025                       0.0013 
beta                              (C.R. ‐0.5%)              ( C.R.‐ 0.257%)
Incidence                            60‐80                          66

Shanthimala de Silva at el  Lancet 2000: 355: 786–91, Thalassaemia in Sri Lanka; ……..
Age Frequency Distribution
                              1231 patients  
300




250




200




150
                                                                                                                                          Series1



100




 50




  0
      0‐4 yrs 5‐9 yrs   10‐14  15‐19    20‐24  25‐29    30‐34    35‐39  40‐44    45‐49  50‐54    55‐59  60‐64    65‐69  70‐74    75‐79 
                         yrs    yrs      yrs    yrs      yrs      yrs    yrs      yrs    yrs      yrs    yrs      yrs    yrs      yrs
Incidence of thalassaemia in SL? 
Incidence of thalassaemia in SL?
450


400


350


300


250


200


150


100


 50


  0
      5‐9 yrs     10‐14 yrs            15‐19 yrs


                Live          Deaths
Thalassaemia Prevention
   Th l      i P      ti


Teenage screening and promoting 
safe marriages by motivating the 
    public  through education
      bli th      h d ti
Thalassaemia Prevention
  Thalassaemia Prevention
• Education campaign
• Screening protocol 
• Strategy of Prevention
• Monitoring  the progress 
Education to Promote Screening
  Education to Promote Screening
• School children – Examination question 
• Higher education institutions
  Higher education institutions
• General public
  – Media
  – Lectures
• Professionals
  – H lth
    Health
  – Registrar of marriages, GS
Screening Protocol
                                      Routine process

• Step 1 – FBC – above 15 yrs, volunteer   
   – Green card if MCV > 80 fl and MCH > 27 pg
   – Iron therapy if MCV = or < 80 fl or MCH = or < 27 pg
• Step 2 – Repeat FBC after 3 mo Iron therapy
  Step 2  Repeat FBC after 3 mo Iron therapy
   – Green card if MCV > 80 fl and MCH > 27 pg
   – HPLC if MCV
     HPLC if MCV = or < 80 fl or MCH = or < 27 pg
                        80 fl MCH           27
• Step 3 – HPLC for confirmation
   – Pink card and counseling for confirmed carriers
   – If HPLC is negative  hematologists opinion 
                  g                 g     p
Screening Protocol
                                who need early results

• Step 1 – FBC and HPLC    
  – Green card if MCV > 80 fl and MCH > 27 pgpg
  – Red card for HPLC positive thal traits 
  – Iron therapy if MCV or < 80 fl or MCH or < 27
    Iron therapy if MCV = or < 80 fl or MCH = or < 27 
    pg
• Step 2 – Repeat FBC and HPLC after 3 mo of 
  Iron therapy
  – Evaluate for false positive HPLC  or MCV/MCH 
Counseling and Education
Counseling and Education
Monitoring the Prevention Program 
 Monitoring the Prevention Program

• Percentage of screen coverage (by 
  PHM division)
• Incidence of high risk marriages
  Incidence of high risk marriages
• Incidence of high risk pregnancies
  Incidence of high risk pregnancies
• Incidence of thalassaemia births 
Percentage of Screening
       Percentage of Screening
• At PHM level 
• 1000 families per PHM
  1000 families per PHM
• Indicator of success of educational 
  campaign
• Indicator of success
             f
• 50% screening  75% reduction of
  50% screening  75% reduction of 
  incidence high risk pregnancies  
Incidence of High Risk Marriages 
 Incidence of High Risk Marriages
• To be reported by the registrar of marriages
• One registrar of marriage register 500 – 1000
  One registrar of marriage register 500  1000 
  marriages per year

• When to inquire about thalassaemia status
            q
• Maintaining confidentiality
• Both partners have the right to know  
Incidence of High Risk Pregnancies 
Incidence of High Risk Pregnancies
• All the mother are registered
• From antenatal clinic
  From antenatal clinic
• Late to know but help to monitor
Incidence of Thalassaemia Births
 Incidence of Thalassaemia Births
• To be reported by pediatricians
• Late indicator
  Late indicator
• Helps to plan the management 
Thank you

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Sri Lanka - Current Situation in Control Strategies and Health Systems in Asia

  • 1. Thalassaemia in Sri Lanka;  Prevalence and Prevention l d i Rasnayaka M Mudiyanse M Mudiyanse
  • 2. Country  Sri Lanka Country – Sri Lanka • Size – 65 610 km2 • Population – 20 653 million • Per capita income 2399 USD Per capita income 2399 USD • Nine province 25 Districts  Grama Seva divisions  one officer per 500 – 1000 f ili ffi 500 1000 families  • Nine Provincial Directorates of Health  291 Medical  Officer of Health (MOH) 43 PHM per 100 000  population  • Total Births (2010) ‐ 364 565 • Total Marriages (2010) ‐ 200 985 Total Marriages (2010)  200 985
  • 3. Country  Sri Lanka Country – Sri Lanka • Life expectancy – M‐68.1, F ‐76.6 yrs  Life expectancy – M 68 1 F 76 6 yrs • Literacy ratio ‐ 92%.  y • Vaccination coverage  ‐ 90%.  • CMR – 10.4 per 1000 live births • IMR – 8.5 per 1000 live births IMR 8 5 per 1000 live births • NMR  ‐ 5.9 per 1000 live births  p • MMR ‐ 14.2 per 100 000 births
  • 4. History of Thalassaemia in Sri Lanka History of Thalassaemia in Sri Lanka • 1950 – four cases of Cooley’s anemia in  y Sinhalees by C C De Silva at el • 1959 – 15 cases of HbE beta thalassaemia C C  De Silva and Nagarathnam  De Silva and Nagarathnam • 1962 – Three families with Hb S  • 1995 – 2011 – more advanced studies   1. C. C. de SILVA and C. E. S. WEERATUNGE , COOLEY'S ANAEMIA IN SINHALESE  1 C C d SILVA d C E S WEERATUNGE COOLEY'S ANAEMIA IN SINHALESE CHILDREN , Achieves of disease of childhood 1950 2. N. SAHA and B. BANERJEE idence of Abnormal Haemoglobins in Different Ethnic  Groups of Indians Humangenetik 11,300‐‐303 (1971) G f I di H tik 11 300 303 (1971) 3. C. C. DE SILVA, M.D., F.R.C.P. D. T. D. BULUGAHAPITIYA, M.B., B.S. JUSTIN DE SILVA  SINHALESE FAMLY WITH HAEMOGLOBIN S BY BRITISH MEDICAL JOURNAL June 2 1962
  • 5. Thalassaemia in Sri Lanka ‐ Prevalence  Sri Lanka  Wayamba Beta thalassaemia  2350 220 Hb E /b t th l E /beta thal.. 1060 260 Total number of pts Total number of pts 3410 480 Gene frequency beta frequency beta 0.011 0 011 0.0125 0 0125 Gene frequency e bata 0.0025 0.0075 1. Anuja Premawardana, Life Sciences & Medicine, Human Molecular Genetics Volume13,  Thalassemia in Sri Lanka: a progress report , 2. 2 Shanthimala de Silva, Lancet 2000: 355: 786 91 Thalassaemia in Sri Lanka: Silva 786–91, implications for the future health burden of Asian populations
  • 6. National Survey on Prevalence of  National Survey on Prevalence of thalassaemia in Sri Lanka ‐ 2011
  • 7. Objectives  Objectives • To establish national prevalence data •TTo evaluate the pattern of drugs  l t th tt fd usage by institution usage by institution • To evaluate serum ferritin levels • To predict the minimal incidence
  • 8. Methodology • Permission from the ministry of health SL • Contacted all the institutions with facilities for  blood transfusion • Collect data Collect data  – Age or date of birth – Sex – Diagnosis (beta thalassaemia, E beta, HB S or other) – Last ferritin level – Amount of chalation drugs used by the institution  g y
  • 9. Results  Results • Total number of institutions contacted – 42 out of 81  42 out of 81 • Hospitals with at least one patient ‐19 • Total number of patients traced ‐ 1547 • Details available up to date – 1379 ( 11  ( hospitals)
  • 10. Evaluation of 1379 patients   Evaluation of 1379 patients • Male ‐ 668 (48.4%)  • Female ‐711 (51.6%) F l 711 (51 6%) • beta thalassaemia – 926 (67.1%)  beta thalassaemia – 926 (67 1%) • e beta thalassaemia  305 (22.1%)  e beta thalassaemia ‐ 305 (22.1%) • Others – 148  ( 10.7%) 
  • 11. Average age after evaluation of 1231  patients   • Global average age ‐ 12.6 (SD 5.9) yrs • Beta thalassaemia Beta thalassaemia  – male 11.9 ( SD 3.8) yrs – female 11.4 (SD 4.8) yrs  • HbE/Beta thalassaemia HbE/Beta thalassaemia  – Male ‐ 5.3 (SD 6.0) yrs – Female 16.1 (SD 5.6) yrs.
  • 12. Thalassaemia in Sri Lanka ‐ Prevalence  Lancet 2000 National survey  2011  2011 ‐ 2012 Beta thalassaemia  2350 1020 ( 64.8%) Hb E /beta thal / 1060 348 ( 22.1%) ( ) Total patients Total patients 34 0 3410 1574  574 Gene frequency  0.011 0.0073 Beta B t (CR 2 2%) 2.2%) ( C.R. – 1.45%) ( C R 1 45%) Gene frequency E  0.0025 0.0013  beta  (C.R. ‐0.5%) ( C.R.‐ 0.257%) Incidence  60‐80 66 Shanthimala de Silva at el  Lancet 2000: 355: 786–91, Thalassaemia in Sri Lanka; ……..
  • 13. Age Frequency Distribution 1231 patients   300 250 200 150 Series1 100 50 0 0‐4 yrs 5‐9 yrs 10‐14  15‐19  20‐24  25‐29  30‐34  35‐39  40‐44  45‐49  50‐54  55‐59  60‐64  65‐69  70‐74  75‐79  yrs yrs yrs yrs yrs yrs yrs yrs yrs yrs yrs yrs yrs yrs
  • 14. Incidence of thalassaemia in SL?  Incidence of thalassaemia in SL? 450 400 350 300 250 200 150 100 50 0 5‐9 yrs 10‐14 yrs 15‐19 yrs Live Deaths
  • 15. Thalassaemia Prevention Th l i P ti Teenage screening and promoting  safe marriages by motivating the  public  through education bli th h d ti
  • 16. Thalassaemia Prevention Thalassaemia Prevention • Education campaign • Screening protocol  • Strategy of Prevention • Monitoring  the progress 
  • 17. Education to Promote Screening Education to Promote Screening • School children – Examination question  • Higher education institutions Higher education institutions • General public – Media – Lectures • Professionals – H lth Health – Registrar of marriages, GS
  • 18. Screening Protocol Routine process • Step 1 – FBC – above 15 yrs, volunteer    – Green card if MCV > 80 fl and MCH > 27 pg – Iron therapy if MCV = or < 80 fl or MCH = or < 27 pg • Step 2 – Repeat FBC after 3 mo Iron therapy Step 2  Repeat FBC after 3 mo Iron therapy – Green card if MCV > 80 fl and MCH > 27 pg – HPLC if MCV HPLC if MCV = or < 80 fl or MCH = or < 27 pg 80 fl MCH 27 • Step 3 – HPLC for confirmation – Pink card and counseling for confirmed carriers – If HPLC is negative  hematologists opinion  g g p
  • 19. Screening Protocol who need early results • Step 1 – FBC and HPLC     – Green card if MCV > 80 fl and MCH > 27 pgpg – Red card for HPLC positive thal traits  – Iron therapy if MCV or < 80 fl or MCH or < 27 Iron therapy if MCV = or < 80 fl or MCH = or < 27  pg • Step 2 – Repeat FBC and HPLC after 3 mo of  Iron therapy – Evaluate for false positive HPLC  or MCV/MCH 
  • 21. Monitoring the Prevention Program  Monitoring the Prevention Program • Percentage of screen coverage (by  PHM division) • Incidence of high risk marriages Incidence of high risk marriages • Incidence of high risk pregnancies Incidence of high risk pregnancies • Incidence of thalassaemia births 
  • 22. Percentage of Screening Percentage of Screening • At PHM level  • 1000 families per PHM 1000 families per PHM • Indicator of success of educational  campaign • Indicator of success f • 50% screening  75% reduction of 50% screening  75% reduction of  incidence high risk pregnancies  
  • 23. Incidence of High Risk Marriages  Incidence of High Risk Marriages • To be reported by the registrar of marriages • One registrar of marriage register 500 – 1000 One registrar of marriage register 500  1000  marriages per year • When to inquire about thalassaemia status q • Maintaining confidentiality • Both partners have the right to know  
  • 24. Incidence of High Risk Pregnancies  Incidence of High Risk Pregnancies • All the mother are registered • From antenatal clinic From antenatal clinic • Late to know but help to monitor
  • 25. Incidence of Thalassaemia Births Incidence of Thalassaemia Births • To be reported by pediatricians • Late indicator Late indicator • Helps to plan the management