Voskaridou E.,Thalassaemia Center |
Christoulas D.,251 General Airforce Hospital |
Terpos E.,National and Kapodistrian University of Athens
British Journal of Haematology | Year: 2012
Sickle cell disease (SCD) is an inherited chronic haemolytic anaemia whose clinical manifestations arise from the tendency of the haemoglobin to polymerize and deform red blood cells into the characteristic sickle shape due to a single nucleotide change in the β-globin. Vascular occlusion of small and large vessels can lead to chronic damage of multiple organs including brain, lung, bone, kidney, liver, spleen, and retina. However, the extent to which SCD impacts myocardial function is not very clear. Cardiovascular manifestations include both right and left ventricular systolic and diastolic dysfunction, elevated cardiac output, cardiomegaly and myocardial ischaemia. Progressive heart damage from iron overload occurs in patients requiring routine transfusion therapy. Pulmonary hypertension resulting from intravascular haemolysis has also been recognized as a major complication that independently correlates with survival. This review summarizes all available data for the heart complications in SCD to update the physicians for their appearance, diagnostic procedures and possible management. © 2012 Blackwell Publishing Ltd.
Voskaridou E.,Thalassaemia Center |
Ladis V.,Thalassaemia Center |
Kattamis A.,National and Kapodistrian University of Athens |
Hassapopoulou E.,University General Hospital of Thessaloniki |
And 39 more authors.
Annals of Hematology | Year: 2012
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. © 2012 Springer-Verlag.
Kyrri A.R.,Thalassaemia Center |
Kalogerou E.,Thalassaemia Center |
Loizidou D.,Thalassaemia Center |
Ioannou C.,Thalassaemia Center |
And 7 more authors.
Hemoglobin | Year: 2013
The first epidemiological study for thalassemia in Cyprus was performed by Fawdry in 1946. The study determined that the frequency of β-thalassemia (β-thal) carriers was around 18.0% and that of α0-thal carriers (individuals with both cis α-globin genes inactive) at around 2.0%. In 1998, another study concluded that Cyprus had one of the highest frequencies of β-thal carriers worldwide (17.2%). Based on Haldane's hypothesis that malaria might be the selective agent responsible for the maintenance of high levels of thalassemia and sickle cell disease in many populations around the world, it is expected that following the eradication of the disease in Cyprus in 1948, the carriers of β-thal should decline with each generation. In order to determine whether this has been the case, we compiled frequency data for β-thal carriers from three separate surveys performed as part of the Cyprus National Thalassaemia Screening Programme (NTSP). The surveys were carried out in 1986, 2003 and 2010 involving 9622, 6711 and 5228 subjects, respectively. The expected drop in the prevalence of β-thal carriers for each successive generation following the eradication of malaria, i.e., in the absence of selection pressure, was calculated using the Hardy-Weinberg equation and the mathematical model of Hartl and Clark. The surveys provide supporting evidence for the decrease of the frequency of the β-thal carriers in the Greek Cypriot population, with a drop of 1.89% in 24 years. Copyright © Informa Healthcare USA, Inc.
Evaluation of bone involvement in patients with Gaucher disease: A semi-quantitative magnetic resonance imaging method (using ROI estimation of bone lesion) as an alternative method to semi-quantitative methods used so far
Komninaka V.,Thalassaemia Center |
Kolomodi D.,Laikon General Hospital |
Christoulas D.,251 General Air Force Hospital |
Marinakis T.,Georgios Gennimatas General Hospital |
And 5 more authors.
European Journal of Haematology | Year: 2015
Objective: The aim of this study was to evaluate bone involvement in patients with Gaucher disease (GD) and to propose a novel semi-quantitative magnetic resonance imaging (MRI) staging. Methods: MRI of the lumbar spine, femur, and tibia was performed in 24 patients with GD and 24 healthy controls. We also measured circulating levels of C-C motif ligand-3 (CCL-3) chemokine, C-telopeptide of collagen type-1 (CTX), and tartrate-resistant acid phosphatase isoform type-b (TRACP-5b). Results: We used the following staging based on MRI data: stage I: region of interest (ROI) 1/2 of normal values and bone infiltration up to 30%; stage II: ROI 1/3 of normal values and bone infiltration from 30 to 60%; stage III: ROI 1/4 of normal values and bone infiltration from 60% to 80%; and stage IV: detection of epiphyseal infiltration, osteonecrosis and deformity regardless of the ROI's values. All but two patients had abnormal MRI findings: 9 (37.5%), 6 (25%), 3 (12.5%), and 4 (16.7%) had stages I-IV, respectively. Patients with GD had elevated chitotriosidase, serum TRACP-5b, and CCL-3 levels (P < 0.001). Conclusions: We propose an easily reproducible semi-quantitative scoring system and confirm that patients with GD have abnormal MRI bone findings and enhanced osteoclast activity possibly due to elevated CCL-3. © 2015 John Wiley & Sons A/S.
Nishad A.A.N.,University of Colombo |
De Silva I.S.,Thalassaemia Center |
Perera H.L.,Thalassaemia Center |
Pathmeswaran A.,University of Kelaniya |
And 2 more authors.
Journal of Pediatric Hematology/Oncology | Year: 2014
The national screening policy for hemoglobinopathies uses the cutoffs for red cell indices mean corpuscular volume >80 and mean corpuscular hemoglobin >27, a strategy known to miss some individuals with Hb E trait (EBT), the most common abnormal hemoglobin in Sri Lanka. We wanted to determine if red cell distribution width (RDW) cutoff values would help in increasing the sensitivity of screening for Hb E trait. High-performance liquid chromatography was carried out as the gold standard to detect hemoglobinopathies and red blood cell parameters with colter counter. Receiver operating characteristic curve was drawn to determine the cutoff value for EBT against β-trait (BTT) and other anemias. Of the 504 patients, 246 had BTT, 110 had EBT, and 151 had other types of anemias. Mean (SD) RDW among patients with BTT was 16 (2.8), with EBT 14.5 (2.9), and with other anemias 15.8 (4.2) (P>0.001). With 14.45 as the cutoff for RDW and considering accepted values for mean corpuscular volume >80 and mean corpuscular hemoglobin >27, it gave a predictive sensitivity of 98.2% for EBT. By using RDW cutoff at 14.45 in addition to the accepted screening indices, sensitivity of Hb E trait detection went up to 98.2% from 86.6%. This study highlights the importance of taking RDW into consideration for screening. Copyright © 2014 by Lippincott Williams & Wilkins.