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Kermānshāh, Iran

Terpos E.,National and Kapodistrian University of Athens | Voskaridou E.,Thalassemia Center
Annals of the New York Academy of Sciences | Year: 2010

Osteoporosis represents a prominent cause of morbidity in patients with thalassemia. The delay in sexual maturation, the presence of diabetes and hypothyroidism, the parathyroid gland dysfunction, the progressive marrow expansion, the iron toxicity on osteoblasts, the iron chelators, and the deficiency of growth hormone or insulin growth factors have been identified as major causes of osteoporosis in thalassemia. Adequate hormonal replacement, effective iron chelation, improvement of hemoglobin levels, calcium and vitamin D administration, physical activity, and smoking cessation are the main to-date measures for the management of the disease. During the last decade, novel pathogenetic data suggest that the reduced osteoblastic activity, which is believed to be the basic mechanism of bone loss in thalassemia, is accompanied by a comparable or even greater increase in bone resorption. Therefore, the role of bisphosphonates, potent inhibitors of osteoclast activation, arises as a major factor in the management of osteoporosis in thalassemia patients. © 2010 New York Academy of Sciences. Source

Saiviroonporn P.,Siriraj Hospital | Viprakasit V.,Thalassemia Center | Khuhapinant A.,Mahidol University | Wood J.C.,University of Southern California
Journal of Computer Assisted Tomography | Year: 2011

Purpose: To compare the observer variability of the conventional region-based (RB) to the typical and proposed pixel-wise (PW) methods for cardiac T2* analysis in thalassemia patients. Design AND Methods: Fifty thalassemia major patients were enrolled for the study. Short-axis bright- and black-blood sequences were acquired and analyzed using the RB and PW methods. Regions were defined using the whole septum (WS) or partial septum (PS). From the same PS region, results were reported by mean (PS-PW) and median (MPS-PW). Intraobserver and interobserver variabilities were investigated on all data set by 2 independent observers blinded to the result. Results: The T2* values from the PS-PW and MPS-PW methods were comparable to the conventional WS-RB method on both scanning techniques. When comparing the interobserver variability from the WS-RB to the PS-PW method, the coefficient of variation of the PS-PW method was equivalent (4.5% vs 4.7%, P = NS) for the bright-blood technique but 31% lower (4.0% vs 2.8%, P = 0.21) for the black-blood technique. The proposed MPS-PW method performed even better with respect to the conventional WS-RB method, decreasing interobserver coefficient of variation by 24% (4.5% vs 3.5%, P = 0.08) and 42% (4.0% vs 2.4%, P = 0.02), respectively. Intraobserver reproducibility followed the same trend. Conclusions: The proposed PW method using the median of T2* values calculated from partial interventricular septum region provided lower intraobserver and interobserver variabilities compared with the conventional RB or typical PW methods. Copyright © 2011 by Lippincott Williams & Wilkins. Source

Murad H.,Syrian Atomic Energy Commission | Moassas F.,Syrian Atomic Energy Commission | Jarjour R.,Syrian Atomic Energy Commission | Mukhalalaty Y.,Thalassemia Center | Al-Achkar W.,Syrian Atomic Energy Commission
Hemoglobin | Year: 2014

Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G>A), codon 39 (C>T)], IVS-I-110 (G>A), IVS-I-1 (G>A) and IVS-I-5 (G>C). The Hb S [β6(A3)Glu→Val; HBB: c.20A>T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM). © 2014 Informa Healthcare USA, Inc. All rights reserved. Source

Keser I.,Akdeniz University | Yesilipek A.,Akdeniz University | Canatan D.,Thalassemia Center | Lulec G.,Akdeniz University
Turkish Journal of Medical Sciences | Year: 2010

Aim: Abnormal hemoglobins are the most common hemoglobinopathies after beta-thalassemia in the world. More than 40 abnormal hemoglobin variants have been reported in the Turkish population. Therefore, it is one of the target areas for carrier screening. In our study, we aimed to screen the abnormal hemoglobins that cause clinical thalassemia in the Antalya population. Materials and methods: The present study identified the abnormal hemoglobins associated with the beta-globin gene using different molecular genetic techniques following high performance liquid chromatography (HPLC) results. We studied 972 postnatal and 361 prenatal cases (total: 1333 cases, 2666 chromosomes) with the disorder from 1998 up to July 2008. DNA extraction from peripheral blood, chorionic villi samples (CVS), amniotic cells, and cord blood samples was carried out using standard procedures. Following polymerase chain reaction (PCR) and amplification of the betaglobin gene, allele refractory mutation system (ARMS), reverse dot blot hybridization (RDBH), Nanochip, and DNA sequencing were performed to identify the mutations. Variable number of tandem repeats (VNTR) analysis was used for elimination of maternal contamination in prenatal diagnosis. We identified and characterized abnormal hemoglobin variants with novel and rare beta-thalassemic mutations. Results: Seven different abnormal hemoglobins were found in Antalya province, Turkey, namely Hb Antalya, Hb Tyne, HbS, Hb G-Coushatta, HbE, Hb Knossos, and Hb D-Los Angeles. Conclusion: Some of the abnormal hemoglobin variants found are unstable and some of them cannot be detected by simple electrophoretic examinations. Our findings suggest that abnormal hemoglobins are more frequent than expected among the other abnormal hemoglobins found in Turkey, and it is important both to perform prenatal diagnosis and to give genetic counseling for abnormal hemoglobins to families at risk for thalassemia. © Tübi̇tak. Source

Caocci G.,Bone Marrow Transplant Center | Efficace F.,Health Outcomes Research Unit | Ciotti F.,Pediatric Immuno Hematology and BMT Unit | Roncarolo M.G.,Pediatric Immuno Hematology and BMT Unit | And 10 more authors.
Biology of Blood and Marrow Transplantation | Year: 2011

Although hematopoietic stem cell transplantation (HSCT) has been widely used to treat pediatric patients with beta-thalassemia major, evidence showing whether this treatment improves health-related quality of life (HRQoL) is lacking. We used child-self and parent-proxy reports to prospectively evaluate HRQoL in 28 children with beta-thalassemia from Middle Eastern countries who underwent allogeneic HSCT in Italy. The PedsQL 4.0 Generic Core Scales were administered to patients and their parents 1 month before and 3, 6, and 18 months after transplantation. Two-year overall survival, thalassemia-free survival, mortality, and rejection were 89.3%, 78.6%, 10.9% and 14.3%, respectively. The cumulative incidence of acute and chronic graft-versus-host disease (GVHD) was 36% and 18%, respectively. Physical functioning declined significantly from baseline to 3 months after HSCT (median PedsQL score, 81.3 vs 62.5; P = .02), but then increased significantly up to 18 months after HSCT (median score, 93.7; P = .04). Agreement between child-self and parent-proxy ratings was high. Chronic GVHD was the most significant factor associated with lower HRQoL scores over time (P = .02). The child-self and parent-proxy reports showed improved HRQoL in the children with beta-thalassemia after HSCT. Overall, our study provides preliminary evidence-based data to further support clinical decision making in this area. © 2011 American Society for Blood and Marrow Transplantation. Source

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