Turk J Haematol 2017 Apr 13

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

Aydınok Y, Oymak Y, Atabay B, Aydoğan G, Yeşilipek A, Ünal S, Kılınç Y, Oflaz B, Akın M, Vergin C, Sezgin Evim M, Çalışkan Ü, Ünal Ş, Bay A, Kazancı E, İleri DT, Atay D, Patıroğlu T, Kahraman S, Söker M, Akcan M, Akdeniz A, Büyükavcı M, Alanoğlu G, Bör Ö, Soyer N, Özdemir Karadaş N, Uysalol E, Türker M, Akçay A, Ocak S, Güneş AM, Tokgöz H, Uysal Z, Tiftik N, Karakaş Z.
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.
ategory="UNASSIGNED">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.