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thalassemia major

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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/29141316/-a-clinical-analysis-of-micafungin-treatment-of-pulmonary-invasive-fungal-infection-in-pediatric-patients-with-acute-leukemia-or-post-hematopoietic-stem-cells-transplantation
#3
K Huang, K Y Qiu, L L Deng, J P Fang, Y Li, H X Guo, D H Zhou
Objective: To investigate the efficacy and safety of micafungin (MCF) for pulmonary invasive fungal disease (PIFD) in pediatric patients with acute leukemia or post hematopoietic stem cells transplantation. Method: Twenty-five neutropenic PIFD children with acute leukemia or post hematopoietic stem cells transplantation in Sun Yat-sen Memorial Hospital of Sun Yat-sen University were selected from January 2012 to June 2015, including 12 males and 13 females, age range 2-15 (average 6.2±2.0) years. There were 12 cases of acute leukemia (AL) after chemotherapy, 4 cases of acute leukemia (AL) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and 9 cases of β-thalassemia major after allo-HSCT...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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/29127676/genetic-basis-and-genetic-modifiers-of-%C3%AE-thalassemia-and-sickle-cell-disease
#5
Swee Lay Thein
β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. Despite the apparent genetic simplicity, both disorders display a remarkable spectrum of phenotypic severity and share two major genetic modifiers-α-globin genotype and innate ability to produce fetal hemoglobin (HbF, α2γ2).This article provides an overview of the genetic basis for SCD and β-thalassemia, and genetic modifiers identified through phenotype correlation studies...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29121379/olfactory-dysfunction-in-%C3%AE-thalassemia-major-patients-treated-with-iron-chelating-agents
#6
Serhan Derin, Selvet Erdogan, Murat Sahan, Mehmet Fatih Azik, Hatice Derin, Yasar Topal, Hatice Topal
Ocular and ophthalmologic adverse effects may occur in patients with β-thalassemia major (BTM) treated regularly with blood transfusions and iron-chelating agents. We hypothesized that olfactory dysfunction may be present in this patient population. We aimed to investigate olfactory dysfunction in patients with BTM and to determine etiologic factors. A total of 43 patients with BTM were included in the study. Forty-three subjects without nasal complaints, history of facial trauma, or nasal surgery were included as the controls...
October 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/29099866/investigation-of-foxo3-dynamics-during-erythroblast-development-in-%C3%AE-thalassemia-major
#7
Naruchit Thanuthanakhun, Lalana Nuntakarn, Somponnat Sampattavanich, Usanarat Anurathapan, Suphanun Phuphanitcharoenkun, Savichaya Pornpaiboonstid, Suparerk Borwornpinyo, Suradej Hongeng
The FoxO3 transcription factor is a key regulator of oxidative stress and erythroid maturation during erythropoiesis. In this study, we explored the involvement of FoxO3 in severe β-thalassemia. Using primary CD34+ hematopoietic progenitor cells from patients with β-thalassemia major, we successfully developed an in vitro model of ineffective erythropoiesis. Based on this model, FoxO3 activity was quantified in single cells using high throughput imaging flow cytometry. This study revealed a significant reduction of FoxO3 activity during the late stage of erythroblast differentiation in β-thalassemia, in contrast to erythropoiesis in normal cells that maintain persistent activation of FoxO3...
2017: PloS One
https://www.readbyqxmd.com/read/29099735/effect-of-pharmacogenetic-markers-of-vitamin-d-pathway-on-deferasirox-pharmacokinetics-in-children
#8
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Antonio Piga, Antonio D'Avolio
OBJECTIVES: Patients with β-thalassemia major have extremely low vitamin D levels, owing to reduced intestinal absorption, subicteric tint, and/or iron-induced higher pigmentation. We investigated whether some polymorphisms within the VDR, CYP24A1, CYP27B1, and GC genes could play a role in deferasirox pharmacokinetics in a cohort of pediatric patients. PATIENTS AND METHODS: Eighteen children with β-thalassemia were enrolled. Drug plasma concentrations at the end of dosing interval (Ctrough) and after 0, 2, 4, 6, and 24 h of drug administration were measured by a HPLC-UV method...
November 2, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29097498/short-term-administration-of-jak2-inhibitors-reduces-splenomegaly-in-mouse-models-of-%C3%A3-thalassemia-intermedia-and-major
#9
Carla Casu, Vania Lo Presti, Paraskevi Rea Oikonomidou, Luca Melchiori, Osheiza Abdulmalik, Pedro Ramos, Stefano Rivella
No abstract text is available yet for this article.
November 2, 2017: Haematologica
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
#10
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/29075069/buccal-mucosa-exfoliative-cell-prussian-blue-stain-co-relates-with-iron-overload-in-%C3%AE-thalassemia-major-patients
#11
Pooja K Gajaria, Ujwala M Maheshwari, D B Borkar, Reeta Dhar, Varsha Pancholi
Thalassemics require regular blood transfusion therapy leading to iron overload in the body tissues, which is a major cause of morbidity and mortality in these patients. We hereby attempted to measure this iron overload by means of exfoliative cytology, a non-invasive and inexpensive technique. The aims and objectives of our study were: 1. To detect iron overload by oral exfoliative cytology using Perl's Prussian blue stain in β-thalassemia major patients. 2. To correlate staining positivity with serum ferritin levels...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29075068/the-impact-of-transfusion-and-chelation-on-oxidative-stress-in-immigrant-syrian-children-with-%C3%AE-thalassemia
#12
Meriç Kaymak Cihan, Burcu Belen, Fatih Bolat, Özlem Gümüştekin Bülbül, Elif Ünver Korgalı, Ülker Koçak
Iron overload in β-thalassemia major and intermedia patients leads to oxidative stress and causes to formation of lipid hydroperoxides. Thiobarbituric acid reactive substances (TBARS) are a well established method for screening and monitoring of lipid peroxidation. We aimed to investigate serum TBARS and its relationship with biochemical and hematologic parameters of Turkish and immigrant Syrian β-thalassemia children reflecting the effects of this socioeconomic condition on follow up of these patients. Lipid peroxidation products (TBARS) of Turkish (TR) (n = 62, from the cities of Gaziantep and Sivas, Turkey) and Syrian (SYR) (n = 34, from Gaziantep, Turkey) β-thalassemia patients aged 2-17 years and 58 healthy subjects aged 2-16 years were studied...
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
#13
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
#14
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/29072100/gonadal-dysfunction-in-adult-male-patients-with-thalassemia-major-an-update-for-clinicians-caring-for-thalassemia
#15
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Salvatore Di Maio, Duran Canatan, Nada Soliman, Mehran Karimi, Christos Kattamis
Hypogonadism is the most frequently reported endocrine complication, affecting 40%-80% of thalassemia major (TM) patients. The prevalence and severity of hypogonadism in TM varies among studies, depending on patients' age, genotype, transfusion frequency and starting age and efficiency of iron chelation. Areas covered: The diagnosis requires careful clinical assessment and appropriate laboratory testing. Its management is more complex compared to other 'classical' causes of hypogonadism because of multiple associated disorders (cardiac, hepatic and endocrine) and other contributing factors basically iron overload and iron toxicity...
November 2, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29068574/total-antioxidant-capacity-in-mediterranean-%C3%AE-thalassemic-patients
#16
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/29061162/whole-transcriptome-analysis-of-human-erythropoietic-cells-during-ontogenesis-suggests-a-role-of-vegfa-gene-as-modulator-of-fetal-hemoglobin-and-pharmacogenomic-biomarker-of-treatment-response-to-hydroxyurea-in-%C3%AE-type-hemoglobinopathy-patients
#17
Vasiliki Chondrou, Petros Kolovos, Argyro Sgourou, Alexandra Kourakli, Alexia Pavlidaki, Vlasia Kastrinou, Anne John, Argiris Symeonidis, Bassam R Ali, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
BACKGROUND: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still remain unknown. Here, we report our findings from whole transcriptome analysis of erythroid cells, isolated from erythroid tissues at various developmental stages in an effort to identify distinct molecular signatures of each erythroid tissue...
October 23, 2017: Human Genomics
https://www.readbyqxmd.com/read/29054753/risk-of-fracture-in-transfusion-na%C3%A3-ve-thalassemia-population-a-nationwide-population-based-retrospective-cohort-study
#18
Yu-Guang Chen, Chieh-Sheng Lu, Te-Yu Lin, Cheng-Li Lin, Huey-En Tzeng, Chun-Hao Tsai
In thalassemia major or transfusion-dependent thalassemia patients, osteoporosis-related bone complications such as fracture events are common. However, no studies have investigated the risk of fracture in transfusion-naïve thalassemia population. Therefore, we conducted a longitudinal nationwide cohort study to determine whether this population has an increased risk of fracture. This nationwide, population-based cohort study analyzed data from 1998 to 2010 obtained from the Taiwanese National Health Insurance Research Database, with a follow-up period extending until the end of 2011...
October 18, 2017: Bone
https://www.readbyqxmd.com/read/29054350/what-can-we-learn-from-ineffective-erythropoiesis-in-thalassemia
#19
REVIEW
Paraskevi Rea Oikonomidou, Stefano Rivella
Erythropoiesis is a dynamic process regulated at multiple levels to balance proliferation, differentiation and survival of erythroid progenitors. Ineffective erythropoiesis is a key feature of various diseases, including β-thalassemia. The pathogenic mechanisms leading to ineffective erythropoiesis are complex and still not fully understood. Altered survival and decreased differentiation of erythroid progenitors are both critical processes contributing to reduced production of mature red blood cells. Recent studies have identified novel important players and provided major advances in the development of targeted therapeutic approaches...
October 3, 2017: Blood Reviews
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#20
J Francis Borgio
BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in β-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling...
2017: PloS One
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