keyword
MENU ▼
Read by QxMD icon Read
search

Beta Thalassemia

keyword
https://www.readbyqxmd.com/read/28321531/bone-quality-in-beta-thalassemia-intermedia-relationships-with-bone-quantity-and-endocrine-and-hematologic-variables
#1
Marina Baldini, A Marcon, F M Ulivieri, S Seghezzi, R Cassin, C Messina, M D Cappellini, G Graziadei
We report the first evaluation of bone quality in 70 thalassemia intermedia (TI) patients (37 males, 33 females, age 41 ± 12 years). Thirty-three patients (47%) had been transfused, 34 (49%) had been splenectomized, 39 (56%) were on iron chelation therapy, and 11 (16%) were on hydroxyurea. Mean hemoglobin was 9.2 ± 1.5 g/dl, median ferritin 537 ng/dl (range 14-4893), and mean liver iron concentration 7.6 ± 6.4 mg Fe/g dw. Fifteen patients (21%) had endocrinopathies, and 29 (41%) had vitamin D deficiency...
March 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28316434/comparison-of-deferasirox-and-deferoxamine-effects-on-iron-overload-and-immunological-changes-in-patients-with-blood-transfusion-dependent-%C3%AE-thalassemia
#2
Hayder M Al-Kuraishy, Ali I Al-Gareeb
INTRODUCTION: Beta-thalassemias are a cluster of inherited (autosomal recessive) hematological disorders prevalent in the Mediterranean area due to defects in synthesis of β chains of hemoglobin. The aim of present study was to compare the effects of deferasirox and deferoxamine on iron overload and immunological changes in patients with blood transfusion-dependent β-thalassemia major and intermedia. PATIENTS AND METHODS: This study involved 64 patients with known cases of β-thalassemia major or intermedia that has been treated with blood transfusion and iron chelators...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28293408/impact-of-donor-specific-anti-hla-antibodies-and-donor-kir-characteristics-in-haploidentical-hsct-for-beta-thalassemia
#3
Marco Andreani, Manuela Testi, Pietro Sodani, Maria Troiano, Andrea Di Luzio, Giuseppe Testa, Michela Falco, Elvira Poggi, Javid Gaziev, Antonina Piazza
No abstract text is available yet for this article.
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28279156/premature-atherosclerosis-in-children-with-beta-thalassemia-major-new-diagnostic-marker
#4
Laila M Sherief, Osama Dawood, Adel Ali, Hanan S Sherbiny, Naglaa M Kamal, Mohamed Elshanshory, Osama Abd Alazez, Mohamed Abd Alhady, Mohamed Nour, Wesam A Mokhtar
BACKGROUND: Early vascular alteration, atherosclerosis and coronary artery disease have emerged as important cardiovascular complications among beta-thalassemia major (B-TM) patients. The aims of the current study were to assess the prevalence of premature atherosclerosis among our B-TM patients, and to investigate the diagnostic value of serum Osteoprotegerin assay as an early biomarker for atherosclerosis. METHODS: This cross-sectional study was conducted at Hematology unit - Pediatric Department, Zagazig University Children Hospital- Egypt in the period from March 2014 to March 2015...
March 9, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#5
Luisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda, Maria Cristina Rosatelli
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of semiconductor sequencing to the non-invasive prenatal diagnosis of β-thalassemia in 37 couples at risk for this variant...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28270645/kidney-function-in-patients-with-different-variants-of-beta-thalassemia
#6
Azar Nickavar, Azadeh Qmarsi, Shahla Ansari, Elham Zarei
INTRODUCTION: Renal involvement is a rare complication of β-thalassemia. Both tubular and glomerular dysfunction might occur in these patients. The aim of this study was to evaluate and compare kidney function in the major, intermedia, and minor variants of β-thalassemia. MATERIALS AND METHODS: Renal tubular and glomerular function of 72 patients with β-thalassemia (25 major, 23 intermedia, and 24 minor) were evaluated. Patients older than 40 years and those with chronic kidney disease, diabetes mellitus, congestive heart failure, associated infections, congenital anomalies of the kidney and urinary tract were excluded...
March 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28270342/cholelithiasis-and-its-complications-in-sickle-cell-disease-in-a-university-hospital
#7
Raquel Alves Martins, Renato Santos Soares, Fernanda Bernadelli De Vito, Valdirene de Fátima Barbosa, Sheila Soares Silva, Helio Moraes-Souza, Paulo Roberto Juliano Martins
INTRODUCTION: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28244588/investigation-of-opg-rank-rankl-genes-as-a-genetic-marker-for-cardiac-abnormalities-in-thalassemia-major-patients
#8
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
OBJECTIVE: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method...
February 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28219045/modulating-the-selectivity-of-matriptase-2-inhibitors-with-unnatural-amino-acids
#9
Catherine St-Georges, Antoine Désilets, François Béliveau, Mariana Ghinet, Sébastien P Dion, Éloic Colombo, Pierre-Luc Boudreault, Rafael J Najmanovich, Richard Leduc, Éric Marsault
Matriptase-2, a type II transmembrane serine protease (TTSP), is expressed in the liver and regulates iron homeostasis via the cleavage of hemojuvelin. Matriptase-2 emerges as an attractive target for the treatment of conditions associated with iron overload, such as hemochromatosis or beta-thalassemia. Starting from the crystal structure of its closest homolog matriptase, we constructed a homology model of matriptase-2 in order to further optimize the selectivity of serine trap peptidomimetic inhibitors for matriptase-2 vs matriptase...
March 31, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28212878/evaluation-of-macular-vascular-abnormalities-identified-by-optical-coherence-tomography-angiography-in-sickle-cell-disease
#10
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
#11
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
#12
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
#13
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
#14
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)...
April 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28149147/craniofacial-characteristics-of-thalassemia-major-patients
#15
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
#16
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
#17
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
#18
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. We used the α:β-globin ratio cutoffs to differentiate between normal individuals and patients with thalassemia...
February 10, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28000341/heart-failure-in-haemoglobinopathies-pathophysiology-clinical-phenotypes-and%C3%A2-management
#19
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
#20
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
keyword
keyword
30021
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"