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Beta Thalassemia

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https://www.readbyqxmd.com/read/28212878/evaluation-of-macular-vascular-abnormalities-identified-by-optical-coherence-tomography-angiography-in-sickle-cell-disease
#1
Ian C Han, Mongkol Tadarati, Katia D Pacheco, Adrienne W Scott
PURPOSE: To evaluate macular vascular flow abnormalities identified by optical coherence tomography angiography (OCT-A) in patients with various sickle cell genotypes. DESIGN: Prospective, observational case series. METHODS: This is a single institution case series of adult patients with various sickle cell genotypes. All patients underwent macular OCT-A (Avanti RTVue XR, Optovue Inc, Fremont, CA). Images were analyzed qualitatively for areas of flow loss and quantitatively for measures of foveal avascular area, parafoveal flow, and vascular density...
February 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28203323/the-effects-of-nutrition-exercise-and-a-praying-program-on-reducing-iron-overload-in-patients-with-beta-thalassemia-major-a-randomized-clinical-trial
#2
Zahra Molazem, Roghaye Noormohammadi, Roya Dokouhaki, Maryam Zakerinia, Zahra Bagheri
BACKGROUND: Excessive iron accumulation in the visceral organs creates problems for patients with beta-thalassemia major. Despite chelation therapy, mortality rate from the complications of this disease is still quite high. OBJECTIVES: This study aimed to investigate the effectiveness of nutrition, exercise, and a praying program at reducing iron overload in patients with beta-thalassemia major. PATIENTS AND METHODS: This randomized clinical trial assessed the effect of the designed care program on iron overload...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#3
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28179703/evaluation-of-five-discriminating-indexes-to-distinguish-beta-thalassemia-trait-from-iron-deficiency-anaemia
#4
Zahid Ullah, Aamer Ali Khattak, Sara Arif Ali, Javaid Hussain, Badshah Noor, Raheela Bano, Muhammad Amin Jan Mahsud
OBJECTIVE: To assess the reliability of different red blood cell indices-based formulae in the indexes formula in differential diagnosis of beta thalassemia trait and iron deficiency anaemia. METHODS: This cross-sectional study was conducted between January and October 2015 in Dera Ismail Khan in the Khyber Pakhtunkhwa province of Pakistan. Patients of beta thalassemia trait and iron deficiency anaemia were registered irrespective of age and gender. About 5 mL of blood was taken from each patient to analyse different red cell parameters like red blood cell count, haemoglobin, mean cell volume, mean cell haemoglobin, mean cell haemoglobin concentration, and red cell distribution width...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28168351/circulating-microparticles-and-the-risk-of-thromboembolic-events-in-egyptian-beta-thalassemia-patients
#5
Ilham Youssry, Nohair Soliman, Mona Ghamrawy, Rania Mohamed Samy, Amal Nasr, Mohamed Abdel Mohsen, Mohamed ElShahaat, Rayan Bou Fakhredin, Ali Taher
The presence of elevated numbers of circulating microparticles (MPs) has been hypothesized to be responsible for the occurrence of thromboembolic events (TEEs) in thalassemic patients. Our aim is to evaluate the presence and the thrombotic risk of circulating MPs in thalassemia patients and to determine the difference in MPs between β-thalassemia major (β-TM) and thalassemia intermedia (TI). The percentage of the annexin-labeled MPs, platelet-derived MPs (PMPs), erythrocyte-derived MPs (RMPs), and endothelial-derived MPs (EMPs) was measured by flow cytometry, in 87 thalassemia patients (39 β-TM and 48 TI)...
February 7, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28149147/craniofacial-characteristics-of-thalassemia-major-patients
#6
Sacide Karakas, Ayfer Metin Tellioglu, Mehmet Bilgin, Imran Kurt Omurlu, Sercin Caliskan, Salih Coskun
OBJECTIVE: Thalassemias major are the most common autosomal recessive disorders; they are characterized by anomalies in the synthesis of the beta chains of hemoglobin and are often associated with varying degrees of craniofacial anomalies. The purpose of this study was to evaluate the craniofacial dimensions of β-thalassemia patients and to identify differences by comparing them to those of a control group. MATERIALS AND METHODS: The study comprised 43 thalassemia major patients and 26 age- and sex- matched healthy control subjects...
October 2016: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28109403/total-antioxidant-capacity-in-beta-thalassemia-a-systematic-review-and-meta-analysis-of-case-control-studies
#7
REVIEW
Husseen Manafikhi, Gregor Drummen, Maura Palmery, Ilaria Peluso
Total Antioxidant Capacity (TAC), a biomarker measuring the antioxidant potential of body fluids, including redox synergistic interactions, is influenced by the presence of products of catabolism such as bilirubin (BR) and uric acid (UA). Hyperuricaemia and increased BR levels were observed in thalassemia. In order to evaluate the differences in TAC values between thalassemic patients and healthy subjects, we performed a systematic review and meta-analysis of case-control studies. After the exclusion of data deemed unsuitable for meta-analysis inclusion and a study imputed of bias by Trim-and-fill analysis, mean difference (MD) and confidence intervals 95% (CI 95%) were calculated by the random effect model for beta-thalassemia major (BTM) (1351 subjects: 770 thalassemic and 581 controls, from 15 studies) and Trait (BTT) or Hemoglobin E (BTE) (475 subjects: 165 thalassemic and 310 controls, from 5 studies)...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28018092/prosthetic-hip-infection-with-edwardsiella-tarda-in-sickle-cell-beta-thalassemia-disease-a-case-report
#8
David B Frumberg, Samantha E Epstein, Julio J Jauregui, Robert Pivec, Aditya V Maheshwari
Periprosthetic infection following total hip arthroplasty is a devastating complication that has been reported to occur in up to 1.6% of all primary total hip arthroplasties. We report a previously unrecognized gram-negative bacillus as the infecting agent in a patient with bilateral total hip arthroplasties for stage IV osteonecrosis. A 22-year-old male with combined sickle cell disease and beta thalassemia with a prior history of unknown hip surgeries and treatment for distal tibial osteomyelitis in Africa developed a periprosthetic joint infection; intra-operative cultures confirmed the infecting organism to be Edwardsiella tarda which was sensitive to late-generation cephalosporins and vancomycin...
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28007617/a-novel-tandem-mass-spectrometry-method-for-first-line-screening-of-mainly-beta-thalassemia-from-dried-blood-spots
#9
Chaowen Yu, Shuodan Huang, Ming Wang, Juan Zhang, Hao Liu, Zhaojian Yuan, Xingbin Wang, Xiaoyan He, Jie Wang, Lin Zou
: Traditional methods for thalassemia screening are time-consuming and easily affected by cell hemolysis or hemoglobin degradation in stored blood samples. Tandem mass spectrometry (MS/MS) proved to be an effective technology for sickle cell disorders (SCD) screening. Here, we developed a novel MS/MS method for β-thalassemia screening from dried blood spots (DBS). Stable isotopic-labeled peptides were used as internal standards for quantification and calculation of the α:β-globin ratios...
February 10, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28000341/heart-failure-in-haemoglobinopathies-pathophysiology-clinical-phenotypes-and%C3%A2-management
#10
REVIEW
Dimitrios Farmakis, Filippos Triposkiadis, John Lekakis, John Parissis
Hereditary haemoglobinopathies, mainly beta-thalassemia and sickle cell disease, constitute the most common monogenic disorders in humans, and although once geographically confined, they are currently globally distributed. They are demanding clinical entities that require multidisciplinary medical management. Despite their genotypic and phenotypic heterogeneity, the haemoglobinopathies share several similarities in pathophysiology, clinical manifestations, therapeutic requirements, and complications, among which heart failure (HF) represents a leading cause of mortality and morbidity...
December 20, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27999484/effects-of-home-care-training-on-the-self-efficacy-of-patients-with-beta-thalassemia-major
#11
Mahdieh Poodineh Moghadam, Hajar Nourisancho, Hossein Shahdadi, Sohila Shahraki, Batoul Azarkish, Abbas Balouchi
BACKGROUND: The self-efficacy of thalassemia patients is an important factor in creating behavioral changes in such patients. Home-care training reduces hospitalization duration as well as relevant costs and improves disease outcomes. This study was designed to assess the effect of home-care training on the self-efficacy of patients with beta thalassemia major. METHODOLOGY: This was a quasi-experimental, case-control, before and after intervention study conducted on 136 thalassemia cases from January 2014 to October 2015...
October 2016: Materia Socio-medica
https://www.readbyqxmd.com/read/27979672/-neonatal-expression-of-beta-thalassemia-trait-associated-with-hereditary-spherocytosis-in-two-monozygotic-twins
#12
H Ben Hamouda, B Mahjoub, H Soua, S Laradi, A Miled, M T Sfar
The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27941710/could-heterozygous-beta-thalassemia-provide-protection-against-multiple-sclerosis
#13
Mehmet Ali Cikrikcioglu, Muhammed Emin Ozcan, Gulistan Halac, Ilhami Gultepe, Kenan Celik, Yahya Sekin, Elif Ece Eser, Sebnem Burhan, Guven Cetin, Omer Uysal
BACKGROUND Heterozygous beta thalassemia (HBT) has been proposed to increase the risk of developing autoimmune disease. Our aim in this study was to examine the prevalence of HBT among multiple sclerosis (MS) patients. MATERIAL AND METHODS HBT frequency was investigated in our MS group (243 patients with MS). Hemoglobin electrophoresis (HE) was carried out if MS patients had a mean corpuscular volume of (MCV) <80 fL and a mean corpuscular hemoglobin level of (MCH) <27 pg/L according to a complete blood count (CBC)...
December 11, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27928477/health-related-quality-of-life-and-health-utility-values-in-beta-thalassemia-major-patients-receiving-different-types-of-iron-chelators-in-iran
#14
Meysam Seyedifar, Farid Abedin Dorkoosh, Amir Ali Hamidieh, Majid Naderi, Hossein Karami, Mehran Karimi, Masoomeh Fadaiyrayeny, Masoumeh Musavi, Sanaz Safaei, Mohammad Mahdi Ahmadian-Attari, Molouk Hadjibabaie, Abdol Majid Cheraghali, Ali Akbari Sari
Background: Thalassemia is a chronic, inherited blood disorder, which in its most severe form, causes life-threatening anemia. Thalassemia patients not only engage with difficulties of blood transfusion and iron chelating therapy but also have some social challenges and health threatening factors. There are some reports on quality of life in thalassemia patients around the world from southeast of Asia to Italy in Europe and United States. In this study, we tried to evaluate and compare Health Related Quality of life (HRQoL) and the health utility in beta thalassemia major patients receiving different types of iron chelators and living in different socio-economical situations...
October 1, 2016: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/27928257/evaluating-the-correlation-between-serum-nt-probnp-level-and-diastolic-dysfunction-severity-in-beta-thalassemia-major-patients
#15
Behzad Alizadeh, Zahra Badiee, Mahmoud Mahmoudi, Mahsa Mohajery
Background: N-terminal pro-brain natriuretic peptide (NT-proBNP) is a sensitive biomarker for the detection of asymptomatic left ventricular (LV) dysfunction. Since β-thalassemia major patients suffer from early diastolic dysfunction due to iron deposition of chronic blood transfusion, we tried to evaluate the correlation between the serum NT-proBNP level and the severity of LV diastolic dysfunction determined by echocardiography in these patients. Methods: Fifty β-thalassemia major patients with normal LV systolic function were studied by tissue Doppler echocardiography, and blood samples were taken at the same time to measure the serum NT-proBNP level...
April 13, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/27924466/quality-of-life-in-children-with-thalassemia-and-their-caregivers-in-india
#16
Sapna Sharma, Bageshree Seth, Prashant Jawade, Madhavi Ingale, Maninder Singh Setia
OBJECTIVES: To assess and compare the Quality of Life (QOL) of children with beta-thalassemia major on regular transfusion therapy with normal children, and of the caregivers of children with beta-thalassemia major to that of caregivers of normal children. METHODS: A cross-sectional comparison of QOL in 75 thalassemic and 80 non-thalassemic children was conducted using the PedsQL™ 4.0 generic core scale. Also self-rated health was assessed in their caregivers using Short Form-36 Health Survey...
December 7, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27890361/iron-dysregulation-in-beta-thalassemia
#17
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
#18
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
#19
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
#20
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
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