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THALASSEMIA SCREENING

THALASSEMIA SCREENING. Jo ë l Zlotogora MD, PhD Department of community genetics. THALASSEMIA IN ISRAEL. ARABS 10% CARRIERS OTHER HEMOGLOBINOPATHIES (SICKLE CELL ANEMIA) JEWS KURDISTAN (10% CARRIERS) OTHER MEDITERANNEAN REGION. THALASSEMIA IN ISRAEL SCREENING.

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THALASSEMIA SCREENING

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  1. THALASSEMIA SCREENING Joël Zlotogora MD, PhD Department of community genetics

  2. THALASSEMIA IN ISRAEL • ARABS • 10% CARRIERS • OTHER HEMOGLOBINOPATHIES (SICKLE CELL ANEMIA) • JEWS • KURDISTAN (10% CARRIERS) • OTHER MEDITERANNEAN REGION

  3. THALASSEMIA IN ISRAELSCREENING • 1987 AFULA REGIONAL PROGRAM • All blood counts from pregnant women in Ahemek hospital • When MCV<77 and or MCH <27, hemoglobin electrophoresis if carrier the partner is referred for hemoglobin electrophoresis • 2000 general screening for population at risk according to blood counts results

  4. THALASSEMIA IN ISRAELSCREENING • NATIONAL PROGRAM The carrier status of all pregnant women from the population at risk must be known Population at risk Arabs and Druze Jews if one of the spouses originated from Kurdistan, Iran, Iraq, Mediterranean region, from the Asiatic part of the late USSR

  5. NEW THALASSEMIA PATIENTS AMONG ARABS IN ISRAEL

  6. NEW PATIENTS AMONG ARABS IN ISRAEL

  7. Decisions concerning the pregnancy after abnormal results

  8. NEW THALASSEMIA PATIENTS AMONG ARABS IN ISRAEL In Israel most of the cases the reason for the birth of a new child affected by thalassemia is the decision of the parents either not to have a prenatal diagnosis or not to abort an affected child However few children are born since the couple is diagnosed late or is not diagnosed

  9. THALASSEMIA/SICKLE CELL ANEMIA PREVENTION • PREMARITAL PROGRAMS ARE OBLIGATORY IN SEVERAL COUNTRIES • CYPRUS TO BE MARRIED AT CHURCH • BY LAW BUT WITH FREEDOM OF CHOICE • IRAN • SAUDI ARABIA • BAHRAIM

  10. THALASSEMIA IN CYPRUS • Improvement of treatment blood, desferrioxamine • sharp rise in blood needs • increased cost: desferrioxamine= 20% of total pharmaceutical budget • Predictions: • In 1970 prevalence 1:1000 in 2020 1:158 • Increase 300-7005 in blood needs • Rise 600-700% in costs • 1981 WHO preventive program Turkish government

  11. THALASSEMIA IN CYPRUS Greek Cypriot Orthodox Church PREMARITAL CERTIFICATE In order to receive the marriage license from the church a certificate attesting that the couple was tested and received counseling is mandatory. most couples are tested

  12. THALASSEMIA IN CYPRUS

  13. > 600,000 inhabitants, 9000 live births 1:7 carrier 1:49 couple at risk 1:158 newborn homozygote THALASSEMIA IN CYPRUS

  14. SAUDI ARABIA • 2002, a royal decree was passed with emphasis on health awareness program for premarital screening and the need for preparation of laboratories • 2004 royal decree making the premarital screening tests mandatory to all those who plan to marry.

  15. SAUDI ARABIA • 207,333 couples screened • 4444 at risk (2.14%) • In 2441 couples at risk 2004-2005 • 1213 contacted; 1101 married (90.8%)

  16. IRAN • 1997 screening to detect carriers of the disease added to premarital blood tests that were already mandatory. • Law allowing abortions for severe diseases if before 120 days (according to the religious fatwa)

  17. IRAN

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