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Beta Thalassemia

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https://www.readbyqxmd.com/read/29149573/the-intrinsic-genetic-and-epigenetic-regulator-factors-as-therapeutic-targets-and-the-effect-on-fetal-globin-gene-expression
#1
Pegah Adelvand, Mohammed Hamid, Soroush Sardari
Introduction The effort to induce fetal globin or Hb F gene expression as an alternative therapy for blood transfusion has been ongoing for few decades, with promising results evident in patients with hemoglobinopathies. Although the clinical outcomes have been satisfactory and significant, there are still concerns about the safety of Hb F inducers in the long-term. There are potent inducers which lose their potency and safety over the course of therapy. Area Covered: In this work, efforts have been made to review the latest findings on intrinsic genetic and epigenetic factors which are able to induce the gene expression of fetal globin in adult patients with beta (β)-thalassemia Major, Intermedia and sickle cell disease (SCD)...
November 17, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29142764/determining-nt-probnp-levels-with-diastolic-dysfunction-in-thalassemia-major-patients
#2
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142547/an-evaluation-of-thyroid-autoimmunity-in-patients-with-beta-thalassemia-minor-a-case-control-study
#3
Ali Ramazan Benli, Sati Sena Yildiz, Mehmet Ali Cikrikcioglu
Objective: The tendency to autoimmune diseases has been reported to be increased in beta thalassemia minor (BTM). The aim of this study was to evaluate whether thyroid autoimmunity is higher in BTM. Methods: Patients with BTM (n=86) and a healthy control group (n=93) were included in this cross-sectional case-control study. The two groups were compared in terms of anti-thyroglobulin (anti-TG) and anti-thyroid peroxidase (anti-TPO) and thyroid hormones. Results: In the BTM group, thyroid hormones and serum anti-TG and anti-TPO antibody levels were not statistically different from those of the control group...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29132816/deferiprone-inhibits-iron-overload-induced-tissue-factor-bearing-endothelial-microparticle-generation-by-inhibition-oxidative-stress-induced-mitochondrial-injury-and-apoptosis
#4
Shing Chan, Qizhou Lian, Mei-Pian Chen, Dan Jiang, Jolie T K Ho, Yiu-Fai Cheung, Godfrey C F Chan
Iron overload-induced cardiovascular toxicity is one of the most common causes of morbidity and mortality in beta-thalassemia major patients. We have previously shown that iron overload-induced systemic arterial changes characterized by endothelial dysfunction are associated with increased endothelial microparticle (EMP) release. In this study, we further demonstrate how EMP release is associated with iron-induced mitochondrial injury and apoptosis of endothelial cells. Iron increased the production of reactive oxygen species (ROS) and calcium influx into mitochondria [Ca(2+)]m...
November 10, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29132487/delta-beta-thalassaemia-in-a-pathan-family
#5
Saqib Qayyum Ahmad, Saerah Iffat Zafar, Hamid Saeed Malik, Suhaib Ahmed
Delta-beta-thalassaemia (δβ-thalassaemia) is a rare type of thalassaemia which mostly results from deletion of δ and β genes with preservation of γ genes. δβ-thalassaemia is classified into (δβ)+ and (δβ)0 types. The (δβ)0-thalassemia is further divided into GγAγ(δβ)0-thalassaemia and Gγ(Aγδβ)0-thalassaemia. In heterozygous state, (δβ)0mutations give rise to phenotype resembling β-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F...
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29127683/gene-and-cell-therapy-for-%C3%AE-thalassemia-and-sickle-cell-disease-with-induced-pluripotent-stem-cells-ipscs-the-next-frontier
#6
Eirini P Papapetrou
In recent years, breakthroughs in human pluripotent stem cell (hPSC) research, namely cellular reprogramming and the emergence of sophisticated genetic engineering technologies, have opened new frontiers for cell and gene therapy. The prospect of using hPSCs, either autologous or histocompatible, as targets of genetic modification and their differentiated progeny as cell products for transplantation, presents a new paradigm of regenerative medicine of potential tremendous value for the treatment of blood disorders, including beta-thalassemia (BT) and sickle cell disease (SCD)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127680/gene-addition-strategies-for-%C3%AE-thalassemia-and-sickle-cell-anemia
#7
Alisa C Dong, Stefano Rivella
Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening co-morbidities, such as stroke or spontaneous fractures. Current treatment involves transfusion and iron chelation; allogeneic bone marrow transplant is the only curative option, but is limited by the availability of matching donors and graft-versus-host disease...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29098096/hbs-sicilian-%C3%AE-%C3%AE-0-thalassemia-a-rare-variant-of-sickle-cell
#8
Grace Onimoe, Genine Smarzo
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)(0)-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29090069/the-frequency-and-importance-of-common-%C3%AE-globin-gene-deletions-among-%C3%AE-thalassemia-carriers-in-an-iranian-population
#9
Azam Moosavi, Ali M Ardekani
BACKGROUND: β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manifestations of beta thalassemia, in known beta-thalassemia carriers and some hematology parameter changes...
October 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29083408/exome-wide-association-study-of-plasma-lipids-in-300-000-individuals
#10
Dajiang J Liu, Gina M Peloso, Haojie Yu, Adam S Butterworth, Xiao Wang, Anubha Mahajan, Danish Saleheen, Connor Emdin, Dewan Alam, Alexessander Couto Alves, Philippe Amouyel, Emanuele Di Angelantonio, Dominique Arveiler, Themistocles L Assimes, Paul L Auer, Usman Baber, Christie M Ballantyne, Lia E Bang, Marianne Benn, Joshua C Bis, Michael Boehnke, Eric Boerwinkle, Jette Bork-Jensen, Erwin P Bottinger, Ivan Brandslund, Morris Brown, Fabio Busonero, Mark J Caulfield, John C Chambers, Daniel I Chasman, Y Eugene Chen, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, John M Connell, Francesco Cucca, L Adrienne Cupples, Scott M Damrauer, Gail Davies, Ian J Deary, George Dedoussis, Joshua C Denny, Anna Dominiczak, Marie-Pierre Dubé, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Aliki-Eleni Farmaki, Mary F Feitosa, Marco Ferrario, Jean Ferrieres, Ian Ford, Myriam Fornage, Paul W Franks, Timothy M Frayling, Ruth Frikke-Schmidt, Lars G Fritsche, Philippe Frossard, Valentin Fuster, Santhi K Ganesh, Wei Gao, Melissa E Garcia, Christian Gieger, Franco Giulianini, Mark O Goodarzi, Harald Grallert, Niels Grarup, Leif Groop, Megan L Grove, Vilmundur Gudnason, Torben Hansen, Tamara B Harris, Caroline Hayward, Joel N Hirschhorn, Oddgeir L Holmen, Jennifer Huffman, Yong Huo, Kristian Hveem, Sehrish Jabeen, Anne U Jackson, Johanna Jakobsdottir, Marjo-Riitta Jarvelin, Gorm B Jensen, Marit E Jørgensen, J Wouter Jukema, Johanne M Justesen, Pia R Kamstrup, Stavroula Kanoni, Fredrik Karpe, Frank Kee, Amit V Khera, Derek Klarin, Heikki A Koistinen, Jaspal S Kooner, Charles Kooperberg, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo Lakka, Claudia Langenberg, Anne Langsted, Lenore J Launer, Torsten Lauritzen, David C M Liewald, Li An Lin, Allan Linneberg, Ruth J F Loos, Yingchang Lu, Xiangfeng Lu, Reedik Mägi, Anders Malarstig, Ani Manichaikul, Alisa K Manning, Pekka Mäntyselkä, Eirini Marouli, Nicholas G D Masca, Andrea Maschio, James B Meigs, Olle Melander, Andres Metspalu, Andrew P Morris, Alanna C Morrison, Antonella Mulas, Martina Müller-Nurasyid, Patricia B Munroe, Matt J Neville, Jonas B Nielsen, Sune F Nielsen, Børge G Nordestgaard, Jose M Ordovas, Roxana Mehran, Christoper J O'Donnell, Marju Orho-Melander, Cliona M Molony, Pieter Muntendam, Sandosh Padmanabhan, Colin N A Palmer, Dorota Pasko, Aniruddh P Patel, Oluf Pedersen, Markus Perola, Annette Peters, Charlotta Pisinger, Giorgio Pistis, Ozren Polasek, Neil Poulter, Bruce M Psaty, Daniel J Rader, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Stephen S Rich, Paul M Ridker, John D Rioux, Neil R Robertson, Dan M Roden, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Nilesh J Samani, Serena Sanna, Naveed Sattar, Ellen M Schmidt, Robert A Scott, Peter Sever, Raquel S Sevilla, Christian M Shaffer, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert V Smith, Blair H Smith, Sangeetha Somayajula, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kathleen E Stirrups, Nathan Stitziel, Konstantin Strauch, Heather M Stringham, Praveen Surendran, Hayato Tada, Alan R Tall, Hua Tang, Jean-Claude Tardif, Kent D Taylor, Stella Trompet, Philip S Tsao, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Natalie R van Zuydam, Anette Varbo, Tibor V Varga, Jarmo Virtamo, Melanie Waldenberger, Nan Wang, Nick J Wareham, Helen R Warren, Peter E Weeke, Joshua Weinstock, Jennifer Wessel, James G Wilson, Peter W F Wilson, Ming Xu, Hanieh Yaghootkar, Robin Young, Eleftheria Zeggini, He Zhang, Neil S Zheng, Weihua Zhang, Yan Zhang, Wei Zhou, Yanhua Zhou, Magdalena Zoledziewska, Joanna M M Howson, John Danesh, Mark I McCarthy, Chad A Cowan, Goncalo Abecasis, Panos Deloukas, Kiran Musunuru, Cristen J Willer, Sekar Kathiresan
We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD...
October 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29075082/response-to-alpha-interferon-treatment-of-the-congenital-dyserythropoietic-anemia-type-i-in-two-sicilian-beta-thalassemia-carriers
#11
V Agrigento, R Barone, S Sclafani, R Di Maggio, M Sacco, A Maggio, E D'Alcamo
Congenital dyserythropoietic anemia type I (CDAI) is an autosomal recessive inherited haematological disorder associated with moderate-to-severe anemia characterized by ineffective erythropoiesis with distinct morphological abnormalities in erythroid precursors. We present two case of congenital dyserythropoietic anemia type I in two Sicilian patients heterozygous for β(0) 39 globin gene cod 39 C > T with marked bone marrow abnormalities, responding to treatment with alpha interferon. The diagnosis was established using routine haematological and biochemical test, light and electron microscopy; molecular analysis of the CDAN1 gene associated to the CDAI disease was performed...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29075067/the-effects-of-hfe-polymorphisms-on-biochemical-parameters-of-iron-status-in-arab-beta-thalassemia-patients
#12
Suad AlFadhli, Matra Salem, D K Shome, Najat Mahdi, Rasheeba Nizam
In this study, the potential effect of three HFE gene polymorphisms (C282Y, H63D and S65C) and the SLC40A1 A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls. H63D was the only polymorphism detected in our cohort...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29075066/a-comparison-between-mrit2-and-nt-probnp-in-early-detection-of-heart-diseases-in-thalassemia-major-patients-a-cross-sectional-study
#13
Kourosh Goudarzipour, Parinaz Alizadeh, Hesameddin Hoseini Tavassol, Reyhaneh Kazemi, Peyman Eshghi, Saeed Mojtahedzadeh
One of the most common causes of mortality in major thalassemia is cardiac complications. Despite existence of several methods for diagnosis of cardiac complications in thalassemia, this sequel persists as a major problem in these patients. The aim of this study is to compare the level of serum NT-ProBNP and cardiac MRI T2* in early detection and treatment of cardiac disorders in beta thalassemia major patients. 35 major thalassemic patients on regular transfusion were selected in our center from 2013 to 2014...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29068574/total-antioxidant-capacity-in-mediterranean-%C3%AE-thalassemic-patients
#14
Ioannis Tsamesidis, Claudio Fozza, Eleni Vagdatli, Anastasia Kalpaka, Carla Cirotto, Maria Carmina Pau, Antonella Panataleo, Francesco Turrini, Elisavet Grigoriou, Eugenia Lymperaki
BACKGROUND: Beta thalassemia major (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound anemia, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly. Because of repeated blood transfusions, BT patients are subjected to peroxidative tissue injury due to secondary iron overload. OBJECTIVES: The aim of the study was to analyze: 1) the total antioxidant capacity (TAC) value in BT patients (study group) and their healthy controls (control group) from Greece (Central Macedonia) and Italy (Sardinia); correlations between 2) the TAC and ferritin levels of BT patients, and 3) the TAC and ferritin values in BT patients with different chelation therapies...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29051877/a-case-of-non-traumatic-avascular-necrosis-of-femur-in-case-of-transfusion-dependent-thalassemia
#15
Geeta Mandhani, Manas Kalra, Ramani Narasimhan, V K Khanna, Amita Mahajan
INTRODUCTION: Avascular necrosis of the head of femur (AVNF) has frequently been reported with sickle cell anemia but is not commonly associated with beta thalassemia. CASE REPORT: We report a case of 14-year-old male with transfusion-dependent thalassemia (TDT) and hepatitis C, who developed bilateral atraumatic AVNF requiring surgical correction. The likely etiopathogenesis and the review of literature for this uncommon finding are discussed. CONCLUSION: AVNF should be considered as a possibility in a patient with TDT presenting with hip pain...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29037546/acceptance-towards-giving-birth-to-a-child-with-beta-thalassemia-major-a-prospective-study
#16
Yiu Man Chan, Oi Ka Chan, Yvonne Kwun Yue Cheng, Tak Yeung Leung, Terence Tzu Hsi Lao, Daljit Singh Sahota
OBJECTIVE: To explore the acceptance of pregnant Chinese women on giving birth to a child with beta-thalassemia major. MATERIALS AND METHODS: Women's acceptance on having a child with beta thalassemia major was assessed using standard gamble metrics during an interviewer-administered survey on 309 women recruited in the antenatal clinic. Utility scores were determined and the association with sociodemographic factors was assessed. RESULTS: The median utility score for having a child with beta-thalassemia major was 0...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29035157/evaluation-of-serum-levels-of-c3-and-c4-complement-factors-in-patients-with-beta-thalassemia-major-in-khuzestan-province-southwest-iran
#17
Mehri Ghafourian, Mehrnosh Esmaeili, Alireza Sadeghi, Ali Malekei Naseri, Nader Dashti-Gerdabi
BACKGROUND AND OBJECTIVES: Thalassemia syndrome is the most common genetic disorder in the world and infection is the second cause of death in these patients. Measurement of serum C3 and C4 complement factors in serum was done in 60 patients with beta-thalassemia major in comparison with 30 healthy subjects as control group. MATERIALS AND METHODS: The serum level of C3 and C4 complement factors in 60 patients with beta-thalassemia major who were randomly selected from among the patients referred to Shafa Hospital of Ahvaz was evaluated and compared with 30 samples from healthy individuals with no history of recent infectious or autoimmune diseases...
October 16, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/29033512/heart-rate-recovery-as-a-novel-test-for-predicting-cardiac-involvement-in-beta-thalassemia-major
#18
Selcuk Kucukseymen, Isa Oner Yuksel, Goksel Cagirci, Erkan Koklu, Volkan Karakus, Serkan Cay, Gorkem Kus, Erdal Kurtoglu, Sakir Arslan
BACKGROUND: Abnormal heart rate recovery (HRR) is predictive of cardiac mortality. Autonomic abnormalities in beta-thalassemia major (TM) patients have been reported in previous studies. However, the importance of low HRR in exercise stress test in TM patients has not yet been ascertained. Therefore, this study will be the first of its kind in the literature. METHODS: Exercise stress test was performed on 56 TM patients who were being treated at the Thalassemia Center of our hospital, along with 46 non-TM iron deficiency anemia (IDA) patients as a control group...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/28992618/pregnancy-outcome-among-women-with-beta-thalassemia-major-in-north-sardinia
#19
Claudio Fozza, Maria Antonietta Asara, Nadia Vacca, Sara Caggiari, Anna Monti, Francesca Zaccheddu, Giampiero Capobianco, Salvatore Dessole, Fausto Dore, Roberto Antonucci
No abstract text is available yet for this article.
October 10, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28981928/-molecular-epidemiological-survey-of-hemoglobinopathies-in-yongzhou-area-of-hunan-province
#20
Jie Tian, Deguo Tang, Shaohui Yang, Ju Wang, Yanmin Ai, Miao Zhang
OBJECTIVE: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program. METHODS: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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