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Ymittos Athens, Greece

Dimitriadou M.,Aristotle University of Thessaloniki | Christoforidis A.,Aristotle University of Thessaloniki | Fidani L.,Aristotle University of Thessaloniki | Economou M.,Aristotle University of Thessaloniki | And 3 more authors.
Osteoporosis International | Year: 2016

Summary: This study is to estimate the degree of genetic contribution of Fok-I gene polymorphism of Vitamin D receptor to bone mass in patients with thalassaemia. Results indicate a protective role of the f allele of the Fok-I gene polymorphism when found in homozygosity on bone mineral density of young thalassemic patients. Introduction: The purpose of this study is to estimate prospectively the degree of genetic contribution of Fok-I gene polymorphism of vitamin D receptor (VDR) to the evolution of bone mass in patients with beta-thalassemia major (b-TH). Methods: Sixty-four children and young adults (33 males and 31 females) with mean decimal age of 23.20 ± 5.41 (range 9.25–32.41 years) were recruited in this study. All patients were genotyping for Fok-I gene polymorphism and were assessed with dual energy X-ray absorptiometry (DXA) at baseline and 2 years after. Z-scores were calculated based on normal age and sex matched Caucasian population. Metabolites of vitamin D, intact PTH, total calcium, inorganic phosphorous, and alkaline phosphatase were measured at the serum pre-transfusion. Results: A moderate proportion of patients had decreased DXA Z-scores (Z-score ≤−2) predominately in total hip (31 %) and secondary in lumbar spine (15.6 %). Patients being homozygous for the f allele had apparently higher BMD Z-scores compared with those carrying the F allele in homo- or heterozygosity, however, with a difference that did not reached significance. Interestingly enough, a significant deterioration in BMD Z-scores measured at femur (FF: P = 0.004 Ff: P < 0.001, ff: P = 0.024) and total hip (FF: P = 0.022, Ff: P = 0.005) was recorded for all type of genotypes, except for ff genotype and with regard to the total hip DXA values. An increased prevalence of serum 25(OH)D3 deficiency (59.4 %) and 25(OH)D3 borderline (12.5 %) was recorded. Conclusion: Our study indicates a protective role of the f allele of the Fok-I gene polymorphism when found in homozygosity on bone mineral density of young patients with b-TM. © 2015, International Osteoporosis Foundation and National Osteoporosis Foundation.

Ladis V.,The Greek Society of Paediatric Haematology and Oncology | Ladis V.,National and Kapodistrian University of Athens | Karagiorga-Lagana M.,The Greek Society of Paediatric Haematology and Oncology | Karagiorga-Lagana M.,Thalassaemia Unit | And 4 more authors.
European Journal of Haematology | Year: 2013

Objectives: Beta thalassaemia major (β-TM) and sickle-cell disease (SCD) are severe haemogobinopathies requiring life-lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in Greece during the last 30 yrs. Methods: Data of affected births between 01/01/1980 and 31/12/2009 were collected in a nationwide scale, and expected vs. observed rates of new births were calculated and compared. In a subpopulation of affected births of Greek origin, the causes for occurrence of the new affected birth were also collected and analysed. Results: Overall, the reduction in new cases was 81.1% and 84.6% for β-TM and SCD, respectively. For β-TM, a constant declining trend was recorded over the 30-yr period, whereas for SCD, a transient reversal was observed in the mid-1990s probably due to the significant influx of immigrants of African origin. Programme failure was 2.2 times more common among new β-TM births of Greek origin compared to new SCD cases (P < 0.001). Unawareness and parental choice were more frequent in SCD compared to β-TM (unawareness: OR = 1.4, P = 0.05, parental choice: OR = 1.9, P = 0.01). The main cause for programme failure was carrier misidentification and incorrect genetic advice for β-TM and SCD, respectively. Conclusions: The β-TM and SCD prevention programme in Greece has significantly reduced the numbers of new affected births. The outcomes could be optimised in groups of non-Greek origin, in carrier identification and by offering specialised genetic counselling. © 2013 John Wiley & Sons A/S.

Tsironi M.,Thalassaemia Unit | Tsironi M.,University of Peloponnese | Karagiorga M.,Thalassaemia Unit | Aessopos A.,National and Kapodistrian University of Athens
Hemoglobin | Year: 2010

The reproductive thalassemic population is growing older and doctors confront the challenge of the thalassemic pregnancy. Pregnancy is characterized by dynamic multiple system changes, resulting in increased basal oxygen consumption, changes in energy substrate use by different organs and increased susceptibility to oxidative stress, while homozygous transfusion-dependent β-thalassemia (β-thal) patients manifest cardiac, hepatic, endocrine, and metabolic disorders attributable to chronic anoxia and iron overload. Pregnant thalassemic patients require significantly larger amount of total blood transfusion during pregnancy and iron overload increases the oxidative stress of pregnancy, while the risk for cardiovascular events, in a high cardiac output state, is augmented and chelation treatment is generally avoided due to the potential teratogenicity. Pregnancy in thalassemia major should be considered high risk, and be cared for by an expert team with special caution and sensitivity. © 2010 Informa UK, Ltd.

Bourli E.,Aristotle University of Thessaloniki | Dimitriadou M.,Aristotle University of Thessaloniki | Economou M.,Thalassaemia Unit | Vlachaki E.,Thalassaemia Unit | And 5 more authors.
Pediatric Pulmonology | Year: 2012

Background Pulmonary dysfunction represents one of the most undervalued and less recognized complications in patients with β-thalassaemia. Objectives The aim of this study was to assess the pattern of pulmonary dysfunction and consequently to investigate possible associated factors that might contribute to lung impairment in young patients with β-thalassaemia major. Methods Fifty-two children and young adults (mean age: 21.33 ± 6.24 years) with β-thalassaemia major on conventional treatment (transfusions and iron chelation therapy) were included in the study. A complete computerized pulmonary function testing (PFT) system for recording pulmonary diffusion capacity and simultaneous determination of alveolar volume and pulmonary volumes was equipped. Results Results showed that 20 patients (38.46%) had restrictive pulmonary pattern that was preferentially observed in older and shorter patients. Serum ferritin levels were higher in the restrictive group (2,096 ± 1,831 ng/dl) compared to patients with normal pulmonary function (1,354 ± 942 ng/dl) (P = 0.066). Diffusional impairment characterized by significantly lower DLCO*% values, was observed in the restrictive group (P = 0.004), implicating the 62.5% of the population studied. Paired linear correlations showed that age was negatively correlated to DLCO*% (r = -0.548, P < 0.001) and SaO2% (r = -0.789, P < 0.001) and with most of the pulmonary functional parameters that determine a restrictive. Multivariate regression analysis identified age as the major predictor for restrictive pulmonopathy followed by serum ferritin levels. Conclusions Our study shows that pulmonary impairment is shown in a great proportion even among asymptomatic young thalassaemic patients, thus, regular screening of pulmonary function should be adopted in the routine clinical follow up of these patients. Copyright © 2012 Wiley Periodicals, Inc.

Dimitriadou M.,Aristotle University of Thessaloniki | Christoforidis A.,Aristotle University of Thessaloniki | Economou M.,Aristotle University of Thessaloniki | Tsatra I.,Thalassaemia Unit | And 4 more authors.
European Journal of Haematology | Year: 2010

Objectives: Despite advances in conventional treatment, iron-induced cardiomyopathy is still the most frequent cause of death among patients with β-thalassaemia major. Recent studies have correlated increased myocardial iron content to decreased levels of vitamin D in thalassaemic patients. The aim of this study was to measure parathormone (PTH) and metabolites of vitamin D and consequently to investigate whether these parameters predispose to myocardial iron overload in patients with β-thalassaemia major. Methods: In 62 patients (29 M and 33 F, mean age: 22.79 ± 6.18 yr) with β-thalassaemia major levels of intact parathormone (iPTH) and vitamin D metabolites [25(OH)D 3 and 1,25(OH) 2D 3] were measured in serum. Additionally, estimation of myocardial iron content was performed by magnetic resonance imaging, whereas mean serum ferritin concentrations were calculated for 1 yr prior to the study. Results: Results showed markedly decreased levels of serum 25(OH)D 3 in 37 patients (60%), whereas 7 patients (11%) had borderline 25(OH)D 3 levels (between 50 and 75 nmol/L). Serum iPTH levels were significantly higher in patients having increased myocardial iron compared to those having normal myocardial iron (44.04 ± 22.09 pg/mL vs. 31.39 ± 14.30 pg/mL, P = 0.017). Multivariant regression analysis identified PTH levels as the major predictor of increased myocardial iron. © 2009 John Wiley & Sons A/S.

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