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.

A national registry of haemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births.

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology. NRHG records all patients affected by thalassaemia major (TM), thalassaemia intermedia (TI), "H" Haemoglobinopathy (HH) and sickle cell disease (SCD). Moreover, data about the annual rate of new affected births along with deaths, between 2000 and 2010, are reported. A total of 4,506 patients are registered all over the country while the number of affected newborns was significantly decreased during the last 3 years. Main causes for still having affected births are: (1) lack of medical care due to financial reasons or low educational level; (2) unawareness of time limitations for prenatal diagnosis (PD); due either to obstetricians' malpractice or to delayed demand of medical care of couples at risk; and (3) religious, social or bioethical reasons. Cardiac and liver disorders consist main causes for deaths while life expectancy of patients lengthened after 2005 (p < 0.01). The NRHG of patients affected by haemoglobinopathies in Greece provides useful data about the haemoglobinopathies in the Greek population and confirms the efficacy of the National Thalassaemia Prevention Program on impressively decreasing the incidence of TM and sickle cell syndromes.

Clinical prognostic markers in patients with severe sepsis: a prospective analysis of 139 consecutive cases.

OBJECTIVES: To analyze the clinical characteristics and determine predictive factors of mortality in previously healthy individuals suffering from severe sepsis. METHODS: The study included 139 patients with severe sepsis, admitted to the Department of Medicine over a two years period. Data recorded on admission included demographic information, blood pressure, core temperature, white blood count, hepatic and renal function tests, coagulation factors, blood gases, serum lactic acid levels, simplified acute physiology score (SAPS-II) and Glasgow Coma Scale (GCS). RESULTS: On admission, 62 patients were hypotensive, 52 had signs of diffuse intravascular coagulation (DIC), 72 had renal and 27 hepatic dysfunction. The overall mortality rate was 27.3%. Twenty-nine patients had septic shock on admission with a mortality rate of 62.07%. Hypoxemia, metabolic acidosis and the presence of DIC were more frequent in non-survivors, who also had significantly higher SAPS-II on admission and days 3 and 7. Independent factors associated with mortality were older age, septic shock, DIC and acute renal failure on admission, as well as SAPS-II at all time points and lactic acid levels on day 7. CONCLUSIONS: Septic patients with advanced age, septic shock, renal failure, DIC and metabolic acidosis on admission are at increased risk of mortality. The sustained presence of high SAPS-II and lactacidemia one week after admission are also important risk factors of poor outcome.