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Beta Thalassemia

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https://www.readbyqxmd.com/read/27890361/iron-dysregulation-in-beta-thalassemia
#1
REVIEW
Kamonlak Leecharoenkiat, Pathrapol Lithanatudom, Wannapa Sornjai, Duncan R Smith
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis. Ferroportin is the sole cellular iron export protein, and its expression is regulated transcriptionally, post-transcriptionally and post-translationally. Hepcidin, a hormone produced by liver cells, post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes...
November 2016: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/27878421/the-role-of-the-atrial-electromechanical-delay-in-predicting-atrial-fibrillation-in-beta-thalassemia-major-patients
#2
Anna Rago, Vincenzo Russo, Andrea Antonio Papa, Carmine Ciardiello, Bruno Pannone, Maria Carolina Mayer, Giovanni Cimmino, Gerardo Nigro
BACKGROUND: Paroxysmal atrial tachyarrhythmias frequently occur in beta-thalassemia major (β-TM) patients. The aim of the current study was to evaluate the atrial electromechanical delay (AEMD) in a large β-TM population with normal cardiac function and its relationship to atrial fibrillation (AF) onset. METHODS: Eighty β-TM patients (44 men, 36 women), with a mean age of 36.2 ± 11.1 years, and 80 healthy subjects used as controls, matched for age and gender, were studied for the occurrence of AF during a 5-year follow-up, through 30-day external loop recorder (ELR) monitoring performed every 6 months...
November 22, 2016: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/27872728/what-unrelated-hematopoietic-stem-cell-transplantation-in-thalassemia-taught-us-about-transplant-immunogenetics
#3
REVIEW
Giorgio La Nasa, Adriana Vacca, Roberto Littera, Eugenia Piras, Sandro Orru, Marianna Greco, Carlo Carcassi, Giovanni Caocci
Although the past few decades have shown an improvement in the survival and complication-free survival rates in patients with beta-thalassemia major and gene therapy is already at an advanced stage of experimentation, hematopoietic stem cell transplantation (HSCT) continues to be the only effective and realistic approach to the cure of this chronic non-malignant disease. Historically, human leukocyte antigen (HLA)-matched siblings have been the preferred source of donor cells owing to superior outcomes compared with HSCT from other sources...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27872702/gamma-reactivation-using-the-spongy-effect-of-klf1-binding-site-sequence-an-approach-in-gene-therapy-for-beta-thalassemia
#4
Nasrin Heydari, Laleh Shariati, Hossein Khanahmad, Zahra Hejazi, Mansoureh Shahbazi, Mansoor Salehi
OBJECTIVES: β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. MATERIALS AND METHODS: A plasmid containing a 192 bp sequence with two repeats of KLF1 binding sites on β-globin and BCL11A promoters was constructed and used to transfect the K562 cell line...
October 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/27871907/prognostic-value-of-t786c-and-g894t-enos-polymorphisms-in-sickle-cell-disease
#5
Iakovos Armenis, Vassiliki Kalotychou, Revekka Tzanetea, Panagoula Kollia, Zoi Kontogeorgiou, Dimitra Anastasopoulou, Marina Mantzourani, Michael Samarkos, Konstantinos Pantos, Kostas Konstantopoulos, Ioannis Rombos
Endothelial Nitric Oxide Synthase (eNOS) is crucial for vascular homeostasis. Polymorphisms T786C and G894T are reportedly affecting eNOS regulation and have been related to various diseases. Sickle Cell Disease (SCD), a clinically diverse chronic hemolytic anemia, implies impaired nitric oxide bioavailability. Aim of this study was to determine eNOS genotype for T786C and G894T polymorphisms in Greek patients with SCD and to elucidate its functional consequences and possible effects on clinical phenotype. Seventy nine steady state cases, most of them compound heterozygous for Sickle cell anemia/beta thalassemia and 48 controls were enrolled...
November 18, 2016: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/27870471/analytical-evaluation-of-the-adams-%C3%A2-a1c-ha-8180-thalassemia-mode-high-pressure-liquid-chromatography-analyser-for-the-measurement-of-hba2-and-hbf
#6
E Urrechaga
BACKGROUND: ADAMS(™) A1cHA-8180T is a HPLC system; within 3.5 min, it quantifies HbF, HbA2 , and HbA0 and flags abnormal peaks. We evaluate its analytical performance for routine estimation of HbA2 and HbF, and critical tests were performed for identifying β-thalassemia carriers. METHODS: Trueness imprecision, carry over, linearity, and effect of anemia were evaluated according to ICLH, ICLS, or manufacture's guidelines. Comparison (ADAMS(™) A1c HA-8160T) was performed by running 400 samples from healthy subjects, 30 alpha and 80 beta carriers (range: 1...
December 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27863763/guidelines-on-beta-thalassemia-major-regular-blood-transfusion-therapy-associa%C3%A3-%C3%A3-o-brasileira-de-hematologia-hemoterapia-e-terapia-celular-project-guidelines-associa%C3%A3-%C3%A3-o-m%C3%A3-dica-brasileira-2016
#7
Dante Langhi, Eugênia Maria Amorim Ubiali, José Francisco Comenalli Marques, Mônica de Almeida Verissimo, Sandra Regina Loggetto, Antonio Silvinato, Wanderley Marques Bernardo
No abstract text is available yet for this article.
October 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27857026/the-association-between-health-promoting-lifestyle-and-quality-of-life-among-adults-with-beta-thalassemia-major
#8
Aghbabak Maheri, Roya Sedeghi, Davoud Shojaeezadeh, Azar Tol, Mehdi Yaseri, Mojtaba Ebrahimi
Objectives: Health promoting lifestyle (HPL) is one of the factors affecting the quality of life (QoL) among patients with beta-thalassemia (β-thalassemia). Due to the lack of studies in this field, this study aimed at determining" the association between HPL and QoL among adults with β-thalassemia ". Methods: This cross-sectional (descriptive-analytic )study conducted among 389 adult patients with β-thalassemia in Tehran, Iran. The research instrument included a questionnaire consisting of three parts; demographic items, Short-Form Health Survey (SF-12) and Health Promoting Lifestyle Profile (HPLP-II)...
November 15, 2016: Epidemiology and Health
https://www.readbyqxmd.com/read/27855617/eryptosis-ally-or-enemy
#9
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27853501/evaluation-of-iron-deposition-in-the-adrenal-glands-of-%C3%AE-thalassemia-major-patients-using-3-tesla-mri
#10
Tevfik Guzelbey, Bengi Gurses, Erman Ozturk, Olcay Ozveren, Aysegul Sarsilmaz, Ebru Karasu
BACKGROUND: Beta-thalassemia major (β-TM) patients need blood transfusions, which result in iron deposition. To regulate chelation therapy, iron load has to be measured. With MRI, the amount of signal loss and T2* decay time shortening are used for iron quantification. OBJECTIVES: The aim was to measure adrenal iron load with T2* relaxometry using MRI, and to compare it with liver and cardiac iron and serum ferritin, and to find out whether adrenal iron could be predicted from those parameters...
July 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27848919/clinical-and-biological-specificity-of-beta-thalassemia-intermedia-a-case-report
#11
Jean-Maxime Girard, Guillaume Drevin, Jean-François Brasme, Serge Pissard, Pascal Reynier, Gilles Simard, Marie-Christine Denis
We report the case of a nine-year-old girl, of Moroccan origin, hospitalised for fever and stomach ache. The clinical and biological investigations showed merely a moderate enlargement of the spleen associated with discrete regenerative hemolytic anemia. The etiologic analysis of the hemolysis was completed by the electrophoresis of hemoglobin (Hb) that revealed total absence of HbA, with the presence of 98.7% of HbF and 1.3% of HbA2. These results led to a diagnosis of β0 thalassemia associated with an intermediate phenotype, i...
December 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27829333/immune-status-in-children-with-beta-thalassemia-in-correlation-with-iron-overload-single-center-egyptian-study
#12
Adel Abd Elhaleim Hagag, Mohamed A Elgamsy, Hassan M El-Asy, Rasha M Gamal, Walid N Elshahaby, Enaam S Abd Elbar
BACKGROUND: 'Beta thalassemia is inherited hemoglobin disorder resulting in chronic hemolytic anemia that requires lifelong transfusion therapy'. 'Repeated blood transfusions and RBCs hemolysis are the main causes of iron overload', which in addition to immune abnormalities, are common predisposing factors to infection in patients with thalassemia. Aim of this work was to study immune status including T lymphocyte subsets and serum immunoglobulin levels 'in children with beta- thalassemia in correlation with iron overload'...
November 7, 2016: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/27828729/cross-sectional-study-for-the-detection-of-mutations-in-the-beta-globin-gene-among-patients-with-hemoglobinopathies-in-the-bengali-population
#13
Amrita Panja, Prosanto Chowdhury, Sharmistha Chakraborty, Tapan Kumar Ghosh, Anupam Basu
AIMS: Thalassemia is a common autosomal recessive blood disorder, which is most prevalent in South East Asian and Mediterranean populations. It is considered as a major health burden in the Indian population. The aims of the present study were to investigate the common, as well as uncommon, mutations responsible for thalassemia in the Bengali population. METHODS: The Bengali state was divided into four sampling zones. Mutation detection was done using Sanger sequencing of the HBB gene...
November 9, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27806557/the-effect-of-hemoglobin-correction-by-blood-transfusion-on-pregnancy-outcomes-in-minor-and-intermedia-thalassemia-patients-a-single-blind-controlled-randomized-clinical-trial
#14
Mahin Najafian, Ahmad Ahmadzadeh, Mojgan Barati, Mahin Bahadori, Zeinab Shajirat
To the best of our knowledge, there is no prospective trial study assessing the management of β-thalassemia by blood transfusion in pregnancy. The aim of this study was to investigate the effect of blood transfusion on maternal and neonatal outcomes in pregnant patients with beta thalassemia minor and intermedia. We did this randomized, single -blind, controlled clinical trial on 36 pregnant women with β thalassemia minor and intermedia at two tertiary hospitals of Imam Khomeini and Shafa in Ahvaz, Iran from January 2016 to July 2016...
August 26, 2016: Global Journal of Health Science
https://www.readbyqxmd.com/read/27800664/clinical-pharmacist-provided-services-in-iron-overloaded-beta-thalassemia-major-children-a-new-insight-to-patient-care
#15
Salma M Bahnasawy, Lamia M El Wakeel, Nagham El Beblawy, Manal El-Hamamsy
Iron overloaded β-thalassemia major (BTM) children have high risk of delayed sexual/physical maturation, liver/heart diseases and reduced life expectancy. The lifelong need to use iron chelators along with their unpleasant administration, side effects and lack of awareness regarding iron overload risks, all hamper BTM patient compliance to iron chelators. This study evaluated the impact of clinical pharmacist-provided services on the outcome of iron overloaded BTM children. Forty-eight BTM children were randomly assigned to either control group, who received standard medical care or intervention group, who received standard medical care plus clinical pharmacist-provided services...
October 31, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27787922/bone-health-in-patients-with-hematopoietic-disorders-of-bone-marrow-origin-systematic-review-and-meta-analysis
#16
Kieran Steer, Mariya Stavnichuk, Martin Morris, Svetlana V Komarova
Blood cell production and bone homeostasis are physically interlinked systems that exhibit active cross-talk. We examined how bone health is affected in patients with hematopoietic disorders due to abnormal proliferation of bone marrow cells. The electronic databases Medline, Embase, PubMed, BIOSIS Previews, Web of Science, and Cochrane were searched for studies presenting numerical values for trabecular bone volume or bone mineral density in control and patients with hematopoietic disorders. We identified 5 studies for beta-thalassemia, 6 for sickle cell anemia, 2 for polycythemia vera and essential thrombocythemia, 3 for chronic myelogenous leukemia, 6 for myelofibrosis, 5 for multiple myeloma, and 4 studies each for systemic mastocytosis, lymphocytic leukemia, and hemochromatosis...
October 27, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27786563/non-invasive-pre-implantation-aneuploidy-screening-and-diagnosis-of-beta-thalassemia-ivsii654-mutation-using-spent-embryo-culture-medium
#17
WeiQiang Liu, JianQiao Liu, HongZi Du, JiaWei Ling, XiaoFang Sun, DunJin Chen
BACKGROUND: Cell-free nuclear DNA has been isolated from spent embryo culture medium. Whether this small amount of DNA can be amplified at the whole genome level and the concordance rate of karyotypes and specific alleles between biopsied cells and media has not been evaluated. METHODS: Seven couples were recruited, 88 donated embryos and their corresponding media were collected for whole genome amplification (WGA). The efficiency of WGA, the concordance of chromosome status and the HBB gene IVSII654 allele between biopsied cells and media were investigated...
October 27, 2016: Annals of Medicine
https://www.readbyqxmd.com/read/27768638/bilateral-choroidal-neovascularization-in-a-patient-with-beta-thalassemia-major-and-its-management
#18
Mohammad Yaser Kiarudi, Kaveh Fadakar, Ebrahim Mousavi
PURPOSE: To describe a case of bilateral choroidal neovascularization in a patient with beta-thalassemia major and an interventional therapeutic attempt. METHOD: Retrospective case report. RESULT: A known case of beta-thalassemia major presented with gradual vision loss. Fundoscopy revealed bilateral macular edema accompanied by intraretinal hemorrhages. Optical coherence tomography and fluorescein angiography were compatible with the diagnosis of choroidal neovascularization...
October 20, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27761563/effect-of-iron-overload-on-renal-functions-and-oxidative-stress-in-beta-thalassemia-patients
#19
Mahmood Rasool, Arif Malik, Uzma Jabbar, Irshad Begum, Mahmood H Qazi, Muhammad Asif, Muhammad I Naseer, Shakeel A Ansari, Jummanah Jarullah, Absarul Haque, Mohammad S Jamal
To check the amount of cellular damage caused by serial transfusions of blood in thalassemia patients.  Methods: A cross-sectional study was conducted in the University of Lahore, Lahore, Pakistan between August 2012 and December 2012. A total of 43 thalassemia patients underwent at least 10 blood transfusions. Comprehensive biochemical analysis of blood was performed to record the levels of creatinine, urea, uric acid, albumin, liver function tests, malondialdehyde (MDA), and ferritin.  Results: Serum creatinine (0...
November 2016: Saudi Medical Journal
https://www.readbyqxmd.com/read/27761254/acute-cardiac-decompensation-in-a-patient-with-beta-thalassemia-and-diabetes-mellitus-following-cessation-of-chelation-therapy
#20
Eirini Lioudaki, Martin Whyte
Patients with higher liver iron stores are likely to have a worse cardiac outcome following noncompliance with chelation. Cardiovascular magnetic resonance identifies myocardial siderosis allowing optimization of iron chelation regimes. Diabetes puts thalassemic patients at increased risk of myocardial fibrosis. Dual chelation therapy with deferoxamine and deferiprone offers improved cardiac outcomes.
October 2016: Clinical Case Reports
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