ISSN: 1300-7777 E-ISSN: 1308-5263
A national registry of thalassemia in Turkey; demographic and disease characteristics of patients, achievements and challenges in prevention [Turk J Hematol]
Turk J Hematol. Ahead of Print: TJH-10821 | DOI: 10.4274/tjh.2017.0039  

A national registry of thalassemia in Turkey; demographic and disease characteristics of patients, achievements and challenges in prevention

Yeşim Aydınok1, Yeşim Oymak2, Berna Atabay3, Gönül Aydoğan4, Akif Yesilipek5, Selma Ünal6, Yurdanur Kılınç7, Banu Oflaz8, Mehmet Akın9, Canan Vergin10, Melike Sezgin Evim, Et Al11
1Ege University Medical School - Pediatric Hematology and Oncology, İzmir, Turkey; Harran University Medical School - Pediatric Hematology & Oncology, Şanlıurfa, Turkey
2Harran University Medical School - Pediatric Hematology & Oncology, Şanlıurfa, Turkey
3Tepecik Hospital of Education and Research - Pediatric Hematology & Oncology, İzmir, Turkey
4Kanuni Sultan Suleyman Hospital of Education and Research - Pediatric Hematology and Oncology, İstanbul, Turkey
5Akdeniz University Medical School - Pediatric Hematology & Oncology, Antalya, Turkey
6Mersin University Medical School - Pediatric Hematology & Oncology, Mersin, Turkey
7Cukurova University Medical School - Pediatric Hematology & Oncology, Adana, Turkey
8Diyarbakir Maternity & Children
9Denizli State Hospital - Pediatric Hematology & Oncology, Denizli, Turkey
10Dr. Behcet Uz Children
11Uludag University Medical School - Pediatric Hematology & Oncology, Bursa, Turkey, et all

Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey.
A total of 2046 patients from 27 Thalassemia Centers were registered in 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%). The majority of patients were accumulated into the costal areas of Turkey. The high number of patients in South Eastern Anatolia would be contributed by the highest rate of consanguinity marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles in which 47% of those was IVS1-110(G->A). The probability to undergo splenectomy within the first 10 years of life was 20% and unchanged since 1980s. The iron chelators were administered as monotherapy regimen in 95% of patients and deferasirox was prescribed in 81.3% of those. Deferasirox administration was the highest (93.6%) in patients aged <10 years. The overall 5.8% of thalassemia major patients had match-related hemopoietic stem cell transplantation (HSCT) with a success rate of 77%. Cardiac disease was detected as a major cause of deaths and didn’t show a decreasing trend at 5 years’ cohorts since 1999.
While, HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, at lowest 34 cases per year. The program failure was resulted from missing premarital screening in the majority. Following problems were unawareness of the risk and misinformation of the risk couples. In addition, prenatal diagnosis was either not offered to or not accepted by the risk families.
This study indicated that a continuous effort is needed for optimizing management of thalassemia and developing strategies are essential for further achievements in HCP in Turkey.





Corresponding Author: Yeşim Aydınok, Türkiye


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