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Beta Thalassemia

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https://www.readbyqxmd.com/read/28922657/methods-employed-in-cytofluorometric-assessment-of-eryptosis-the-suicidal-erythrocyte-death
#1
Mohamed Jemaà, Myriam Fezai, Rosi Bissinger, Florian Lang
Suicidal erythrocyte death or eryptosis contributes to or even accounts for anemia in a wide variety of clinical conditions, such as iron deficiency, dehydration, hyperphosphatemia, vitamin D excess, chronic kidney disease (CKD), hemolytic-uremic syndrome, diabetes, hepatic failure, malignancy, arteriitis, sepsis, fever, malaria, sickle-cell disease, beta-thalassemia, Hb-C and G6PD-deficiency, Wilsons disease, as well as advanced age. Moreover, eryptosis is triggered by a myriad of xenobiotics and endogenous substances including cytotoxic drugs and uremic toxins...
September 1, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28914173/flow-cytometric-analysis-of-patients-with-hereditary-spherocytosis-an-indian-scenario
#2
Prabhu Manivannan, Seema Tyagi, Dinesh Chandra, Pravas Mishra, Hara Prasad Pati, Renu Saxena
OBJECTIVES: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening test for hereditary spherocytosis (HS). This study was conducted to evaluate the utility of FC-OFT in all newly diagnosed cases of HS, to compare its diagnostic value with conventional OFT and to correlate with clinical disease severity. METHODS: In this study, the percentage of residual red cells (%RRC) was measured using flow cytometer after creating a red cell suspension...
September 15, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28900367/measurement-of-hba1c-and-hba2-by-capillarys-2-flex-piercing-hba1c-programme-for-simultaneous-management-of-diabetes-and-screening-for-thalassemia
#3
Peifeng Ke, Jiawei Liu, Yan Chao, Xiaobin Wu, Yujuan Xiong, Li Lin, Zemin Wan, Xinzhong Wu, Jianhua Xu, Junhua Zhuang, Xianzhang Huang
INTRODUCTION: Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia. MATERIALS AND METHODS: Samples from 498 normal controls and 175 thalassemia patients were analysed by Capillarys 2FP HbA1c programme (Sebia, France). For method comparison, HbA1c was quantified by Premier Hb9210 (Trinity Biotech, Ireland) in 98 thalassaemia patients samples...
October 1, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28895851/gene-therapy-approaches-to-hemoglobinopathies
#4
REVIEW
Giuliana Ferrari, Marina Cavazzana, Fulvio Mavilio
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Preclinical and early clinical studies showed the safety and potential efficacy of this therapeutic approach as well as the hurdles still limiting its general application. In addition, for both beta-thalassemia and sickle cell disease, an altered bone marrow microenvironment reduces the efficiency of stem cell harvesting as well as engraftment...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28879539/synergistic-effect-of-two-%C3%AE-globin-gene-cluster-mutations-leading-to-the-hereditary-persistence-of-fetal-hemoglobin-hpfh-phenotype
#5
Priya Hariharan, Madhavi Sawant, Manju Gorivale, Ruma Manchanda, Roshan Colah, K Ghosh, Anita Nadkarni
Co-inheritance of gamma and beta globin gene mutations in a compound heterozygous state is rare but of clinical interest as it provides an important data on understanding the HbF expression. Hematological analysis was carried out (Sysmex KX-21). F-cells were enumerated using flow cytometry. Beta globin gene was analysed by CRDB technique and by DNA sequencing. Gamma globin promoter region was sequenced and expression studies were carried out using real time Taqman assay. We report a family, where two inherited defects of the β globin gene cluster segregate...
September 6, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28875336/progression-of-liver-fibrosis-can-be-controlled-by-adequate-chelation-in-transfusion-dependent-thalassemia-tdt
#6
D Maira, E Cassinerio, A Marcon, M Mancarella, M Fraquelli, P Pedrotti, M D Cappellini
A substantial proportion of patients with transfusion-dependent beta-thalassemia major suffer from chronic liver disease. Iron overload resulting from repeated transfusions and HCV infection has been implicated in the development of liver fibrosis. Hepatic siderosis and fibrosis were assessed in 99 transfusion-dependent thalassemia (TDT) patients using transient elastography (TE) and liver iron concentration (LIC) assessed by T2*MRI at baseline and after 4 years. Data were analyzed retrospectively. At baseline, the overall mean liver stiffness measurement (LSM) was 7...
September 5, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28875008/renal-hemosiderosis-among-iranian-transfusion-dependent-%C3%AE-thalassemia-major-patients
#7
Mozhgan Hashemieh, Mitra Radfar, Azita Azarkeivan, Seyed Mohammad Taghi Hosseini Tabatabaei, Sedigheh Nikbakht, Mehdi Yaseri, Kourosh Sheibani
Background: In recent years, the success in management of thalassemic patients, has allowed for some previously unrecognized complications including renal abnormalities to emerge. This prospective study aimed to investigate kidney iron overload by means of MRI T2* and also renal function based on laboratory tests for early markers of glomerular and tubular dysfunction among adult Iranian transfusion-dependent thalassemia major patients. Subjects and Methods: Two-hundred and two patients with transfusion-dependent β-thalassemia major were included in this study in Zafar Adult Thalassemia Center, Tehran, Iran...
April 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28870116/beta-thalassemia-in-the-paediatric-cardiac-surgery-setting-a-case-report-and-literature-review
#8
Rebecca Richardson, Richard Issitt, Richard Crook
Beta (β)-thalassemia is a blood disorder with an incidence of 1 in 100,000.(1) This case report outlines a patient with β-thalassemia requiring cardiopulmonary bypass (CPB) and the measures taken to ensure an uneventful procedure.
September 1, 2017: Perfusion
https://www.readbyqxmd.com/read/28852282/the-bone-pain-crisis-of-sickle-cell-disease-and-malaria-observations-from-gujarat-india
#9
Jyotish Patel, Bharati Patel, Graham R Serjeant
BACKGROUND: Sickle cell disease is a common problem across central India, but its clinical features may differ from that in African populations. There is a need to define the features of sickle cell disease in India, and the current study addresses some features of the bone pain crisis. OBJECTIVES: The objective of the study was to describe the epidemiology of the bone pain crisis of sickle cell disease in Gujarat and explore the relationship with infection by Plasmodium vivax...
July 2017: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/28811791/differentiation-of-beta-thalassemia-trait-from-iron-deficiency-anemia-by-hematological-indices
#10
Tahir Jameel, Mukhtiar Baig, Ijaz Ahmed, Muhammad Barakat Hussain, Motlag Bin Doghaim Alkhamaly
OBJECTIVE: We aimed at finding out reliable parameter in the differentiation of iron deficiency anemia (IDA) and beta-thalassemia trait (β-TT) in the adult population subjected to Saudi Arabian Premarital Screening Program. METHODS: A total of 620 adults (age range 21-36 years) reported during February 2012 to November 2012. Tests for serum iron and ferritin were carried out in individuals showing low hemoglobin (Hb). All the selected subjects' samples were subjected to blood morphology, comparison of MCV, RBC count...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28791595/high-resolution-melting-analysis-for-prenatal-diagnosis-of-beta-thalassemia-in-northern-thailand
#11
Pimlak Charoenkwan, Supatra Sirichotiyakul, Arunee Phusua, Sudjai Suanta, Kanda Fanhchaksai, Rattika Sae-Tung, Torpong Sanguansermsri
High-resolution melting (HRM) analysis is a rapid mutation analysis which assesses the pattern of reduction of fluorescence signal after subjecting the amplified PCR product with saturated fluorescence dye to an increasing temperature. We used HRM analysis for prenatal diagnosis of beta-thalassemia disease in northern Thailand. Five PCR-HRM protocols were used to detect point mutations in five different segments of the beta-globin gene, and one protocol to detect the 3.4 kb beta-globin deletion. We sought to characterize the mutations in carriers and to enable prenatal diagnosis in 126 couples at risk of having a fetus with beta-thalassemia disease...
August 8, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#12
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777854/-a-novel-double-heterozygote-of-hbb-c-219t-a-220g-t-gene-diagnosis-and-pedigree-analysis
#13
Jiezhong Lv, Zhaofan Luo, Jianpei Fang, Tao Du, Hongman Xue, Yong Liu, Jianping Zhang
OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#14
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#15
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28770456/detection-of-myocardial-iron-overload-by-two-dimensional-speckle-tracking-in-patients-with-beta-thalassaemia-major-a-combined-echocardiographic-and-t2-segmental-cmr-study
#16
Fausto Pizzino, Antonella Meloni, Anna Terrizzi, Tommaso Casini, Anna Spasiano, Carlo Cosmi, Massimo Allò, Concetta Zito, Scipione Carerj, Giovanni Donato Aquaro, Gianluca Di Bella, Alessia Pepe
We aimed to evaluate the role of two-dimensional speckle tracking imaging (2DSTI) in detecting early changes of myocardial deformation in patients affected by thalassemia major (TM) and its relation with myocardial iron overload (MIO) detected by T2* cardiovascular magnetic resonance (CMR). We studied 28 TM patients (15 males, 37.4 ± 10 years). All patients underwent CMR and echocardiography in the same day. Segmental and global T2* values were measured. Values of global longitudinal strain (GLS) were derived from the three apical views, while radial and circumferential strain were obtained as average strain from the short axis views at basal, mid and apical level...
August 2, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28768465/interaction-between-hb-e-and-hb-yala-hbb-c-129delt-a-novel-frameshift-beta-globin-gene-mutation-resulting-in-hemoglobin-e-%C3%AE-0-thalassemia
#17
Supachai Ekwattanakit, Suchada Riolueang, Vip Viprakasit
OBJECTIVES: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with chronic hemolytic anemia. METHODS: A comprehensive hematology and DNA analysis was applied in the index patient and her mother. RESULTS: Hematological and hemoglobin analyses were consistent with the clinical diagnosis of Hb E/β(0)-thalassemia...
August 3, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28764232/co-inheritance-of-haemoglobin-d-punjab-and-beta-thalassemia-a-rare-variant
#18
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Here, we present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28756994/dual-energy-x-ray-absorptiometry-predictors-of-vertebral-deformities-in-beta-thalassemia-major
#19
Giangiacomo Osella, Adriano Massimiliano Priola, Sandro Massimo Priola, Antonio Piga, Filomena Longo, Massimo Ventura, Giuseppe Bentivegna, Alberto Angeli, Andrea Veltri, Massimo Terzolo
Vertebral fractures in beta-thalassemia major are increasingly found because of the longer life expectancy of patients, with a major negative impact on their quality of life. We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to identify their best dual-energy X-ray absorptiometry (DXA) predictor among trabecular bone score (TBS), bone mineral density (BMD), and Z-score. Eighty-two outpatients with beta-thalassemia major on regular conventional treatment were studied at a single academic center...
July 27, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28739553/acute-effects-of-blood-transfusion-on-insulin-sensitivity-and-beta-cell-function-in-children-with-beta-thalassemia-hbe-disease
#20
Somboon Wankanit, Ampaiwan Chuansumrit, Preamrudee Poomthavorn, Patcharin Khlairit, Sarunyu Pongratanakul, Pat Mahachoklertwattana
OBJECTIVE: To assess acute effects of blood transfusion on insulin sensitivity and β-cell function in thalassemia patients. METHODS: Fifty children and adolescents with β-thalassemia/HbE disease were enrolled in a prospective cohort study. Hemoglobin, serum ferritin and oral glucose tolerance test (OGTT) were performed prior to, and one week after blood transfusion. Insulin sensitivity indices [Homeostatic Model Assessment (HOMA) of Insulin Resistance (HOMA-IR), Whole Body Insulin Sensitivity Index (WBISI)] and β-cell function indices [HOMA of β-cell function (HOMA-β), Insulinogenic Index (IGI), and Disposition Index (DI)] were calculated from glucose and insulin levels obtained during the OGTT...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
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