A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

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dc.contributor.authorAydinok, Yesim
dc.contributor.authorOymak, Yesim
dc.contributor.authorAtabay, Berna
dc.contributor.authorAydogan, Gonul
dc.contributor.authorYesilipek, Akif
dc.contributor.authorUnal, Selma
dc.contributor.authorKilinc, Yurdanur
dc.contributor.authorOflaz, Banu
dc.contributor.authorAkin, Mehmet
dc.contributor.authorVergin, Canan
dc.contributor.authorEvim, Melike Sezgin
dc.contributor.authorCaliskan, Umran
dc.contributor.authorUnal, Sule
dc.contributor.authorBay, Ali
dc.contributor.authorKazanci, Elif
dc.contributor.authorIleri, Talia
dc.contributor.authorAtay, Didem
dc.contributor.authorPatiroglu, Turkan
dc.contributor.authorKahraman, Selda
dc.contributor.authorSoker, Murat
dc.contributor.authorAkcan, Mediha
dc.contributor.authorAkdeniz, Aydan
dc.contributor.authorBuyukavci, Mustafa
dc.contributor.authorAlanoglu, Guchan
dc.contributor.authorBor, Ozcan
dc.contributor.authorSoyer, Nur
dc.contributor.authorKaradas, Nihal Ozdemir
dc.contributor.authorUysalol, Ezgi
dc.contributor.authorTurker, Meral
dc.contributor.authorAkcay, Arzu
dc.contributor.authorOcak, Suheyla
dc.contributor.authorGunes, Adalet Meral
dc.contributor.authorTokgoz, Huseyin
dc.contributor.authorUnal, Elif
dc.contributor.authorTiftik, Naci
dc.contributor.authorKarakas, Zeynep
dc.date.accessioned2019-10-27T10:46:30Z
dc.date.available2019-10-27T10:46:30Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with beta-thalassemia major (n = 1658, 83.4%) and intermedia (n = 215, 10.8%). Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all beta-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999. Conclusion: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey.en_US
dc.description.sponsorshipEge Children's Foundation; Novartis Pharmaceuticals CorporationNovartisen_US
dc.description.sponsorshipThe authors thank Caglar Serdar, Aylin Gokduman, and Tolga Turgay of Plexus Information Technologies for their website support. The current study and the work presented here are from an Investigator Initiated Trial, which was sponsored by the Ege Children's Foundation and funded by Novartis Pharmaceuticals Corporation.en_US
dc.identifier.doi10.4274/tjh.2017.0039en_US
dc.identifier.endpage18en_US
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue1en_US
dc.identifier.pmid28404539en_US
dc.identifier.startpage12en_US
dc.identifier.urihttps://doi.org/10.4274/tjh.2017.0039
dc.identifier.urihttps://hdl.handle.net/11454/31307
dc.identifier.volume35en_US
dc.identifier.wosWOS:000426572200002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal of Hematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectThalassemiaen_US
dc.subjectHemoglobinopathiesen_US
dc.subjectSplenectomyen_US
dc.subjectRegistriesen_US
dc.subjectIron chelatorsen_US
dc.subjectbeta-thalassemia mutationsen_US
dc.subjectTurkeyen_US
dc.titleA National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Preventionen_US
dc.typeArticleen_US

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