6 research outputs found
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 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