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John B Porter, Maria Domenica Cappellini, Antonis Kattamis, Vip Viprakasit, Khaled M Musallam, Zewen Zhu, Ali T Taher
Non-transfusion-dependent thalassaemias (NTDT) encompass a spectrum of anaemias rarely requiring blood transfusions. Increased iron absorption, driven by hepcidin suppression secondary to erythron expansion, initially causes intrahepatic iron overload. We examined iron metabolism biomarkers in 166 NTDT patients with β thalassaemia intermedia (n = 95), haemoglobin (Hb) E/β thalassaemia (n = 49) and Hb H syndromes (n = 22). Liver iron concentration (LIC), serum ferritin (SF), transferrin saturation (TfSat) and non-transferrin-bound iron (NTBI) were elevated and correlated across diagnostic subgroups...
January 2017: British Journal of Haematology
Supawadee Yamsri, Naruwat Pakdee, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen
Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined...
2016: Acta Haematologica
Antoine N Saliba, Ali T Taher
Patients with non-transfusion-dependent thalassemia (NTDT) experience a wide array of clinical complications despite their independence from frequent, regular red blood cell (RBC) transfusions. According to the current understanding of NTDT, these clinical complications stem from the interaction of multiple pathophysiological factors: ineffective erythropoiesis, iron overload, and hypercoagulability. The state of chronic anemia and hypoxia-resulting from ineffective erythropoiesis and hemolysis-leads to the expansion of the erythroid marrow and extramedullary hematopoiesis...
March 2016: Annals of the New York Academy of Sciences
Karim Z Masrouha, Joelle Wazen, Anthony Haddad, Fadi Saadeh, Ali Taher, Nabil J Khoury
OBJECTIVE OF THE STUDY: To assess the prevalence of cortical bone invasion (CBI) with secondary extramedullary hematopoiesis (EMH) in patients with non-transfusion-dependent thalassemia (NTDT), to determine its predilection sites on thoracic and abdominal imaging, to determine whether there is an association between various clinical and hematological parameters, and to evaluate its various findings mainly on magnetic resonance imaging (MRI), in addition to computed tomography (CT) scans...
August 2016: La Radiologia Medica
Adisak Tantiworawit, Pimlak Charoenkwan, Sasinee Hantrakool, Worawut Choeyprasert, Chate Sivasomboon, Torpong Sanguansermsri
In the present study, we sought to determine the prevalence of iron overload in patients with non-transfusion-dependent thalassemia (NTDT) and its association with genotype and other clinical risk factors, and to evaluate the correlation between serum ferritin (SF) and liver iron concentration (LIC). Myocardial and liver iron concentration was measured by MRI using a T2* gradient multi-echo sequence in NTDT patients, aged 10-50 years. Of 91 patients, 54 (59 %) had hepatic iron overload. None had cardiac iron overload...
June 2016: International Journal of Hematology
Ali T Taher, M Domenica Cappellini, Yesim Aydinok, John B Porter, Zeynep Karakas, Vip Viprakasit, Noppadol Siritanaratkul, Antonis Kattamis, Candace Wang, Zewen Zhu, Victor Joaquin, Marie José Uwamahoro, Yong-Rong Lai
Efficacy and safety of iron chelation therapy with deferasirox in iron-overloaded non-transfusion-dependent thalassaemia (NTDT) patients were established in the THALASSA study. THETIS, an open-label, single-arm, multicentre, Phase IV study, added to this evidence by investigating earlier dose escalation by baseline liver iron concentration (LIC) (week 4: escalation according to baseline LIC; week 24: adjustment according to LIC response, maximum 30mg/kg/day). The primary efficacy endpoint was absolute change in LIC from baseline to week 52...
March 2016: Blood Cells, Molecules & Diseases
Paolo Ricchi, Silvia Costantini, Anna Spasiano, Gianfranco De Dominicis, Tiziana Di Matola, Patrizia Cinque, Massimiliano Ammirabile, Maria Marsella, Aldo Filosa
Patients with Non-Transfusion-Dependent Thalassemia may require regular transfusion therapy. However, these patients are at risk of developing irregular antibodies, making them untransfusable. Second line treatment usually includes hydroxyurea, which however is not effective in all patients. Other treatment options include thalidomide, which has been reported to be safe and effective in selected patients. We report the case of a patient who experienced improvement of hemoglobin levels and of a part of NTDT related complications, following 36months of continuous therapy with low doses of thalidomide...
March 2016: Blood Cells, Molecules & Diseases
Poramed Winichakoon, Adisak Tantiworawit, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Pimlak Charoenkwan
Background. Nontransfusion dependent thalassemia (NTDT) is a milder form of thalassemia that does not require regular transfusion. It is associated with many complications, which differ from that found in transfusion-dependent thalassemia (TDT). Currently available information is mostly derived from beta-NTDT; consequently, more data is needed to describe complications found in the alpha-NTDT form of this disease. Methods. We retrospectively reviewed the medical records of NTDT patients from January 2012 to December 2013...
2015: Anemia
M Domenica Cappellini, John B Porter, Khaled M Musallam, Antonis Kattamis, Vip Viprakasit, Renzo Galanello, Ali T Taher
BACKGROUND: Patients with non-transfusion-dependent thalassemia (NTDT) present with a spectrum of disease severities. Since there are multiple pathophysiologies in such patients, tailoring treatment remains essential. Therefore, one simple, reliable tool would be beneficial to assess disease severity and tailor therapy, particularly for internal medicine specialists who may treat a variety of NTDT patients with a multitude of complications. This would allow for standardization of assessments leading to timely interventions and prevention of complications...
March 2016: European Journal of Internal Medicine
Elliott Vichinsky
OBJECTIVE: The non-transfusion-dependent thalassemias (NTDTs), including thalassemia intermedia (TI), hemoglobin E beta thalassemia, and hemoglobin H disease, have sometimes been regarded as less severe than their transfusion-dependent variants; however, these disorders carry a substantial disease burden (e.g., splenomegaly, iron overload, skeletal effects, and cardiopulmonary disease). The aim of this review is to increase clinician awareness of the growing global problem of NTDT and TI, and discuss the current management strategies for these conditions...
2016: Current Medical Research and Opinion
Hanan Mohamed Mahmoud, Ahmed Al-Saiid Hamed Shoeib, Shereen Mohamed Abd El Ghany, Marwa Mohamed Reda, Iman Ahmed Ragab
UNLABELLED: The α hemoglobin stabilizing protein (AHSP) binds α-Hb and prevents its precipitation limiting free α-Hb toxicities. Our aim was to study AHSP expression in β thalassemia syndromes in relation to their clinical severity and to compare it with its level in sickle cell anemia. We compared patients with β-thalassemia (n=37) (β-thalassemia major (BTM) (n=19) and β-thalassemia intermedia (BTI) (n=18)) with 12 patients with sickle cell anemia as regards clinical severity, age at presentation, transfusion dependency, mean pre-transfusion hemoglobin level, use of hydroxyurea and AHSP expression by real time quantitative PCR...
December 2015: Blood Cells, Molecules & Diseases
Lucía Gutiérrez, Michael J House, Nisha Vasavda, Emma Drašar, Isabel Gonzalez-Gascon Y Marin, Austin G Kulasekararaj, Tim G St Pierre, Swee L Thein
Bone marrow, spleen, liver and kidney proton transverse relaxation rates (R2), together with cardiac R2* from patients with sickle cell disease (SCD), paroxysmal nocturnal hemoglobinuria (PNH) and non-transfusion dependent thalassemia (NTDT) have been compared with a control group. Increased liver and bone marrow R2 values for the three groups of patients in comparison with the controls have been found. SCD and PNH patients also present an increased spleen R2 in comparison with the controls. The simultaneous measurement of R2 values for several tissue types by magnetic resonance imaging (MRI) has allowed the identification of iron distribution patterns in diseases associated with iron imbalance...
2015: PloS One
Nattiya Teawtrakul, Arunee Jetsrisuparb, Chittima Sirijerachai, Kanchana Chansung, Chinadol Wanitpongpun
INTRODUCTION: Bacterial infection is one of the major causes of death in patients with thalassemia. Clinical predictive factors for severe bacterial infection were evaluated in patients with non-transfusion-dependent thalassemia (NTDT). METHODS: A retrospective study was conducted of patients with NTDT aged ≥ 10 years at Srinagarind Hospital, Khon Kaen University, Thailand. Clinical characteristics and potential clinical risk factors for bacterial infection were collected...
October 2015: International Journal of Infectious Diseases: IJID
Patcharawadee Prayalaw, Nattiya Teawtrakul, Arunee Jetsrisuparb, Saranya Pongudom, Goonnapa Fucharoen, Supan Fucharoen
Patients with nontransfusion-dependent thalassemia (NTDT) do not require regular blood transfusion for survival but may encounter several complications that contribute to morbidity and mortality. We report the molecular heterogeneity and hematological features of NTDT in 312 adult patients in northeast Thailand. Hemoglobin (Hb) and DNA analyses identified 177 subjects with Hb E-β-thalassemia, 1 with homozygous β0-thalassemia and 134 with Hb H, AEBart's and EEBart's diseases. For β-thalassemia, 12 different mutations including both β0- and β+-thalassemias were detected...
2016: Acta Haematologica
Mutsuhito Matsuda, Masashi Tsuruta, Hirotoshi Hasegawa, Koji Okabayashi, Takayuki Kondo, Takehiro Shimada, Masashi Yahagi, Yusuke Yoshikawa, Yuko Kitagawa
PURPOSE: Anastomotic leakage (AL) is a critical complication of colorectal cancer surgery. The transanal drainage tube (TDT) is designed to prevent AL caused by decompression and stasis at the anastomosis. We conducted this study to investigate the feasibility of using the TDT to prevent AL following double-stapling technique reconstruction (DST). METHODS: The subjects of this study were 179 patients who underwent curative resection and DST reconstruction for sigmoid colon and rectal cancer in our institution between 2008 and 2013...
May 2016: Surgery Today
A Nadkarni, P Dabke, R Colah, K Ghosh
BACKGROUND: The term thalassemia intermedia describe a form of thalassemia of intermediate severity, between the major transfusion-dependent forms of the disease and the symptomless carrier states. The phenotypic diversity of β-thalassemia results from its underlying genetic diversity. The wide clinical variability of these conditions leads to major difficulties in their management. The molecular basis of thalassemia intermedia is very heterogeneous. The clinical and hematological course of β-thalassemia intermedia is influenced by a number of genetic factors...
December 2015: International Journal of Laboratory Hematology
Somnath Mukherjee, Rashmi R Das, Babita Raghuwanshi
Non-transfusion-dependent thalassemias (NTDT) encompass a group of hereditary chronic hemolytic anemia, which, as the name indicates, not require regular blood transfusion for survival. These include β-thalassemia intermedia, hemoglobin E/β-thalassemia, and Hemoglobin H disease (α- thalassemia intermedia). Individuals with structural variant of hemoglobin especially Hemoglobin S and Hemoglobin C associated with "α" or "β" thalassemia in heterozygous condition may also present with similar features of NTDT...
2015: Current Pediatric Reviews
Adekunle D Adekile, Asma F Azab, Sondus I Al-Sharida, Bahia A Al-Nafisi, Nagihan Akbulut, Rajaa A Marouf, Nada Y Mustafa
Although not regularly transfused, patients with non-transfusion-dependent thalassemia (NTDT) are prone to iron overload and its complications. Their molecular, phenotypical and laboratory characteristics vary in different populations and there is a need to document local prevailing patterns. We have reviewed the records of our patients with NTDT in Kuwait and documented their clinical and molecular characteristics in addition to iron status [serum ferritin and liver magnetic resonance imaging (MRI) T2*], management and complications...
2015: Hemoglobin
Kunrada Inthawong, Pimlak Charoenkwan, Suchaya Silvilairat, Adisak Tantiworawit, Arintaya Phrommintikul, Worawut Choeyprasert, Rungrote Natesirinilkul, Chate Siwasomboon, Pannee Visrutaratna, Somdet Srichairatanakool, Nipon Chattipakorn, Torpong Sanguansermsri
BACKGROUND: Pulmonary hypertension is a major cardiac complication in non-transfusion-dependent thalassemia (NTDT). Several clinical and laboratory parameters, including iron overload, have been shown to have a positive correlation with the incidence of pulmonary hypertension. Non-transferrin-bound iron (NTBI) is a form of free-plasma iron that is a good indicator of iron overload. OBJECTIVES: The aim of this study was to determine the prevalence of pulmonary hypertension in patients with NTDT and to investigate its correlation with the clinical parameters, liver iron concentration (LIC) and NTBI...
December 2015: Hematology (Amsterdam, Netherlands)
Adlette Inati, MohammadHassan A Noureldine, Anthony Mansour, Hussein A Abbas
Thalassemia intermedia (TI), also known as nontransfusion dependent thalassemia (NTDT), is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. NTDT encompasses three distinct clinical forms: β-thalassemia intermedia (β-TI), Hb E/β-thalassemia, and α-thalassemia intermedia (Hb H disease). Over the past decade, our understanding of the molecular features, pathophysiology, and complications of NTDT particularly β-TI has increased tremendously but data on optimal treatment of disease and its various complications are still lacking...
2015: BioMed Research International
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