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Thalassemia

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https://www.readbyqxmd.com/read/28818403/heavy-metal-levels-in-patients-with-ineffective-erythropoiesis
#1
Turan Bayhan, Şule Ünal, Eyüp Çırak, Onur Erdem, Cemal Akay, Orhan Gürsel, İbrahim Eker, Erdem Karabulut, Fatma Gümrük
OBJECTIVES: Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis. METHODS: Blood levels of heavy metals including Pb, Al, Cd, Cr, Co, Cu, and Zn were measured in patients with thalassemia major (TM), thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age- and sex-matched healthy controls...
August 2, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28815805/intracellular-iron-overload-leading-to-dna-damage-of-lymphocytes-and-immune-dysfunction-in-thalassemia-major-patients
#2
Jyoti Shaw, Ayan Chakraborty, Arijit Nag, Arnab Chattopadyay, Anjan Kr Dasgupta, Maitreyee Bhattacharyya
OBJECTIVES: To investigate the cause and effects of intracellular iron overload in lymphocytes of thalassemia major patients. METHODS: 66 thalassemia major patients having iron overload and 10 age matched controls were chosen for the study. Blood sample was collected and serum ferritin, oxidative stress, lymphocyte DNA damage were examined as well as infective episodes were also counted. RESULTS: Case-control analysis revealed significant oxidative stress, iron overload, DNA damage and rate of infections in thalassemia cases as compared to controls...
August 16, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28811791/differentiation-of-beta-thalassemia-trait-from-iron-deficiency-anemia-by-hematological-indices
#3
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/28811695/pai-1-study-in-thalassemia-major-patients-receiving-multiple-blood-transfusion
#4
Ashwini Kumar, H S Batra, Mithu Banerjee, S Bandyopadhyay, T K Saha, Pratibha Misra, Vivek Ambade
Thalassemia is a congenital hemolytic disease which is treated by repeated blood transfusion. Chronic iron overload is currently considered to be the primary cause of mortality in β-thalassemia, mainly due to the induction of left-sided cardiac failure. Iron overload results from a number of mechanisms associated with the disease itself. In addition to chronic iron overload thalassemic patients are more prone for procoagulant status which in turn lead to clinical thrombotic events. The hypercoagulable state in thalassemia is due to multiple elements, a combination of which is often the drive behind a clinical thromboembolic events...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811305/red-blood-cells-in-thrombosis
#5
James R Byrnes, Alisa S Wolberg
Red blood cells (RBCs) have historically been considered passive bystanders in thrombosis. However, clinical and epidemiological studies have associated quantitative and qualitative abnormalities in RBCs, including altered hematocrit, sickle cell disease, thalassemia, hemolytic anemias, and malaria, with both arterial and venous thrombosis. A growing body of mechanistic studies suggests RBCs can promote thrombus formation and enhance thrombus stability. These findings suggest RBCs may contribute to thrombosis pathophysiology and reveal potential strategies for therapeutically targeting RBCs to reduce thrombosis...
August 15, 2017: Blood
https://www.readbyqxmd.com/read/28809726/clinical-and-laboratory-associations-with-persistent-hyperferritinemia-in-373-black-hemochromatosis-and-iron-overload-screening-study-participants
#6
James C Barton, J Clayborn Barton, Paul C Adams
BACKGROUND: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 μg/L men; > 200 μg/L women). MATERIAL AND METHODS: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units...
August 8, 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28807879/apigenin-induced-abcc1-mediated-efflux-of-glutathione-from-mature-erythrocytes-inhibits-the-proliferation-of-plasmodium-falciparum
#7
Ohud Fallatah, Elias Georges
Plasmodium falciparum infection of mature normal erythrocytes leads to heightened oxidative stress that is tolerated in normal but not in erythrocytes from sickle-cell, β-thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency hosts. In this report, it was of interest to perturb the redox homeostasis of normal erythrocytes through drug-induced active efflux of glutathione via erythrocyte ABCC1 (member of the C- subfamily of the human ATP-binding cassette (ABC) transporters). To achieve this objective, we made use of apigenin, shown previously to activate ABCC1 glutathione efflux in mature erythrocytes...
August 11, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/28807236/overcoming-barriers-to-treating-iron-overload-in-patients-with-lower-risk-myelodysplastic-syndrome
#8
REVIEW
Amer M Zeidan, Vinod A Pullarkat, Rami S Komrokji
Myelodysplastic syndromes (MDS) constitute a group of heterogeneous hematopoietic neoplasms characterized by ineffective erythropoiesis, anemia, and/or cytopenias. Supportive care for patients with MDS involves frequent red blood cell transfusions, which places patients with ongoing transfusional dependence (TD) at risk for iron overload (IO). Development of IO and tissue iron deposition can increase the risk of cardiac, hepatic, and endocrine toxicities, infection, and progression to acute myeloid leukemia...
September 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28806577/prevalence-and-predictors-of-cardiac-and-liver-iron-overload-in-patients-with-thalassemia-a-multicenter-study-based-on-real-world-data
#9
Rungroj Krittayaphong, Vip Viprakasit, Pairash Saiviroonporn, Noppadol Siritanaratkul, Suvipaporn Siripornpitak, Arunotai Meekaewkunchorn, Thawatchai Kirawittaya, Pornpun Sripornsawan, Arunee Jetsrisuparb, Jiraporn Srinakarin, Peerapon Wong, Nuttaporntira Phalakornkul, Phakatip Sinlapamongkolkul, John Wood
Prevalence of cardiac and liver iron overload in patients with thalassemia in real-world practice may vary among different regions especially in the era of widely-used iron chelation therapy. The aim of this study was to determine the prevalence of cardiac and liver iron overload in and the management patterns of patients with thalassemia in real-world practice in Thailand. We established a multicenter registry for patients with thalassemia who underwent magnetic resonance imaging (MRI) as part of their clinical evaluation...
August 5, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#10
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28801997/prevalence-of-low-bone-mass-among-adolescents-with-nontransfusion-dependent-hemoglobin-e-%C3%AE-thalassemia-and-its-relationship-with-anemia-severity
#11
Pairunyar Nakavachara, Jaturat Petchkul, Krittha Jeerawongpanich, Pornpimol Kiattisakthavee, Teerarat Manpayak, Parichat Netsakulnee, Katharee Chaichanwattanakul, Julaporn Pooliam, Somdet Srichairatanakool, Vip Viprakasit
BACKGROUND: Low bone mass is common among adolescents with transfusion-dependent β-thalassemia despite adequate transfusion and iron chelation. However, there are few reports regarding bone mineral density (BMD) among adolescents with nontransfusion-dependent thalassemia (NTDT). Indeed, only BMD data in patients with nontransfusion-dependent (NTD) β-thalassemia intermedia have been reported. No previous study has investigated BMD among adolescents with NTD hemoglobin (Hb) E/β-thalassemia...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#12
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28795619/hematological-and-molecular-characterization-of-a-novel-hb-a2-variant-with-homozygous-%C3%AE-thalassemia-2-in-a-southern-thai-individual
#13
Manit Nuinoon, Nutjaree Jeenduang, Aumpika Kesornsit, Dararat Horpet, Thunyaluk Plyduang
We report here the hematological and molecular features of a novel δ-globin chain variant found in a Southern Thai woman. Her complete blood count was as follows: red blood cell (RBC) count 5.90 × 10(12)/L, hemoglobin concentration (Hb) 12.6 g/dL, packed cell volume (PCV) 0.41 L/L, mean corpuscular volume (MCV) 69.5 fL, mean corpuscular Hb (MCH) 21.4 pg, mean corpuscular Hb concentration (MCHC) 30.7 g/dL and RBC distribution width (RDW) 13.1%. The blood smear demonstrated microcytic hypochromic RBCs suggestive of thalassemia trait...
August 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28795231/radiation-induced-gliomas-a-report-of-four-cases-and-analysis-of-molecular-biomarkers
#14
Tsunehito Nakao, Yasuo Sasagawa, Sumihito Nobusawa, Yasushi Takabatake, Hemragul Sabit, Masashi Kinoshita, Katsuyoshi Miyashita, Yasuhiko Hayashi, Hideaki Yokoo, Mitsutoshi Nakada
Radiation-induced glioma (RIG) is a rare secondary glioma. The tumors morphologically resemble their sporadically arising counterparts. Recently, the WHO classification of tumors of the central nervous system was revised to incorporate molecular biomarkers together with classic histological features. The status of molecular biomarkers in RIG, however, remains unclear. The objective of this study was to investigate if commonly accepted glioma-specific biomarkers are relevant in RIGs. Among 269 gliomas diagnosed as WHO grade 2, 3 and 4 in our institution, four were diagnosed as RIGs...
August 9, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28793778/peroxiredoxin-2-a-novel-regulator-of-iron-homeostasis-in-ineffective-erythropoiesis
#15
Alessandro Matte, Luigia De Falco, Enrica Federti, Anna Cozzi, Achille Iolascon, Sonia Levi, Narla Mohandas, Alberto Zamo, Mariasole Bruno, Christophe Leboeuf, Anne Janin, Angela Siciliano, Thomas Ganz, Giorgia Federico, Francesca Carlomagno, Sebastian Mueller, Ines Silva, Carmine Carbone, Davide Melisi, D W Kim, Soo Young Choi, Lucia DE Franceschi
AIMS: Iron-overload (IO) is a life-threatening complication of chronic hemolytic disorders such as β-thalassemia. IO results in severe cellular oxidative damage, leading to organ failure. Peroxiredoxin-2 (Prx2), a typical 2-cysteine-(Cys)-peroxiredoxin, is an important component of cyto-protective system, but its response to IO is still to be fully defined. RESULTS: We studied the effects of IO on Prx2-knockout mice (Prx2-/-). The absence of Prx2 enhanced toxicity due to IO on erythropoiesis...
August 10, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28791910/a-novel-31-1%C3%A2-kb-%C3%AE-thalassemia-deletion-mex3-found-in-a-mexican-family
#16
Víctor M Rentería-López, Francisco J Perea-Díaz, Lourdes C Rizo-delaTorre, Josefina Y Sánchez-López, Bertha Ibarra-Cortés
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5' Alu element has been involved in at least two other α-thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint...
August 9, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28791595/high-resolution-melting-analysis-for-prenatal-diagnosis-of-beta-thalassemia-in-northern-thailand
#17
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/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#18
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#19
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
#20
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
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