National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form. Four thousand thirty-two patients were eligible for inclusion; more than half of them had thalassaemia major. Compared to the previous report, a reduction in the total number of all hemoglobinopathies except for hemoglobinopathy "Η" was evident. The total number of affected births was also reduced; most of them were attributable to diagnostic errors and lack of awareness. Importantly, data on iron overload are reported for the first time; although most patients had low or moderate liver iron concentration (LIC) values, a non-negligible proportion of patients had high LIC. The burden due to heart iron overload was less prominent. Cardiac- and liver-related complications are the major causes of morbidity and mortality. From 2000 to 2015, a decrease in heart-related deaths along with an increase in liver-associated fatalities was observed. The Hellenic Prevention Program along with advances in chelation regimens and iron status monitoring have resulted in improved patient outcomes. The NRHG gives insight into the effectiveness of prevention programs, the therapeutic management of hemoglobinopathies and associated outcomes. NRHG may contribute to the formulation of a roadmap for hemoglobinopathies in Europe and promote the implementation of effective public health policies.

Total antioxidant capacity in Mediterranean ß-thalassemic patients.

BACKGROUND: Beta thalassemia major (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound anemia, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly. Because of repeated blood transfusions, BT patients are subjected to peroxidative tissue injury due to secondary iron overload. OBJECTIVES: The aim of the study was to analyze: 1) the total antioxidant capacity (TAC) value in BT patients (study group) and their healthy controls (control group) from Greece (Central Macedonia) and Italy (Sardinia); correlations between 2) the TAC and ferritin levels of BT patients, and 3) the TAC and ferritin values in BT patients with different chelation therapies. MATERIAL AND METHODS: The studied group consisted of 60 subjects diagnosed with BT (41 female, mean age: 41.5 ± 9.5 years) and 40 healthy controls matched with age and sex (31 female, mean age: 38.5 ± 3.7 years). Desferrioxamine (DFO) was the basic previous chelation regimen for all BT patients. Antioxidant activity was assayed spectrophotometrically, using a TAC Kit (Total Antioxidant Capacity Colorimetric assay kit, produced by Cayman Chemical Co.), and ferritin was assayed by immunoturbidimetry. RESULTS: Lower levels of TAC were observed in BT patients of both countries when compared with controls (1.83 mmol/L vs 2.7 mmol/L in the Italian study group and controls and 2.42 mmol/L vs 3.2 mmol/L in the Greek study group and controls). There were no significant correlations between plasmatic TAC and ferritin. Furthermore, deferasirox was the only chelation treatment in which TAC showed a correlation in both regions. CONCLUSIONS: Our results potentially suggest that the reduced levels of TAC detectable in BT patients could demonstrate their reduced antioxidant defensive mechanisms.