title: A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention.
abstract: OBJECTIVE
  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.
  
  
  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 β-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 β-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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydınok
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Oymak
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Berna
authors.initials: B
authors.lastname: Atabay
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Gönül
authors.initials: G
authors.lastname: Aydoğan
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Akif
authors.initials: A
authors.lastname: Yeşilipek
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Selma
authors.initials: S
authors.lastname: Ünal
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Yurdanur
authors.initials: Y
authors.lastname: Kılınç
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Banu
authors.initials: B
authors.lastname: Oflaz
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Akın
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Canan
authors.initials: C
authors.lastname: Vergin
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Melike
authors.initials: M
authors.lastname: Sezgin Evim
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Ümran
authors.initials: Ü
authors.lastname: Çalışkan
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Şule
authors.initials: Ş
authors.lastname: Ünal
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Bay
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Kazancı
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Talia
authors.initials: T
authors.lastname: İleri
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Didem
authors.initials: D
authors.lastname: Atay
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Türkan
authors.initials: T
authors.lastname: Patıroğlu
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Selda
authors.initials: S
authors.lastname: Kahraman
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Söker
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Mediha
authors.initials: M
authors.lastname: Akcan
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Aydan
authors.initials: A
authors.lastname: Akdeniz
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Büyükavcı
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Güçhan
authors.initials: G
authors.lastname: Alanoğlu
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Özcan
authors.initials: Ö
authors.lastname: Bör
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Nur
authors.initials: N
authors.lastname: Soyer
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Nihal
authors.initials: N
authors.lastname: Özdemir Karadaş
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Ezgi
authors.initials: E
authors.lastname: Uysalol
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Türker
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Arzu
authors.initials: A
authors.lastname: Akçay
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Süheyla
authors.initials: S
authors.lastname: Ocak
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Adalet Meral
authors.initials: AM
authors.lastname: Güneş
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Tokgöz
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Ünal
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Naci
authors.initials: N
authors.lastname: Tiftik
authors.affiliation: Hemoglobinopathy Study Group, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Karakaş
mesh_terms: D017677:Age Distribution; D000483:Alleles; D003710:Demography; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D009154:Mutation; D010641:Phenotype; D011159:Population Surveillance; D012042:Registries; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000517:prevention & control / Q000628:therapy; D014421:Turkey / Q000453:epidemiology
keywords: Hemoglobinopathies; Iron chelators; Registries; Splenectomy; Thalassemia; β-thalassemia mutations Turkey.