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Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.

TitleEfficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.
Publication TypeJournal Article
Year of Publication2018
AuthorsTheodoridou, S., Prapas N., Balassopoulou A., Boutou E., Vyzantiadis T-A., Adamidou D., Delaki E-E., Yfanti E., Economou M., Teli Α., Karakasidou O., Skatharoudi E., Theodoridis T., & Voskaridou E.
JournalHemoglobin
Volume42
Issue4
Pagination257-263
Date Published2018 Jul
ISSN1532-432X
KeywordsAnemia, Sickle Cell, Diagnostic Screening Programs, Female, Genetic Carrier Screening, Genetic Counseling, Greece, Humans, Infant, Newborn, Male, Pregnancy, Prenatal Diagnosis, Program Evaluation, Thalassemia, Transients and Migrants
Abstract

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015). In total 33,837 healthy at-risk individuals (individuals or couples, 91.0% Greeks) were screened. We have screened 1598 pregnancies in 371 (23.0%) (10.0% non Greeks), of whom both parents carried gene defects and were offered genetic counseling. Seventy-six fetuses (23.0%) were predicted to be affected by severe forms of the disease. Following informed parental choices, 73 of the above pregnancies were terminated. Meanwhile, within the study period, 58 new thalassemic babies (five non Greeks) were referred to the Thalassaemia and Sickle Cell Disease Care Unit of Northern Greece, reflecting mostly parental unawareness, choice or the program failure. Based on the region's population, the birth rate and the prevalence of the disease, the anticipated number of new cases is about 45 annually. According to our data, four thalassemic newborns were registered annually at a stable rate in the last 15 years, reaching a reduction of 90.0% of new affected births. Overall, the National Thalassaemia Prevention Programme effectively decreased the incidence of affected newborns in our region.

DOI10.1080/03630269.2018.1528986
Alternate JournalHemoglobin
PubMed ID30501529

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