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Beta Thalassemia

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https://www.readbyqxmd.com/read/28621205/neurocognitive-dysfunction-in-children-with-%C3%AE-thalassemia-major-psychometric-neurophysiologic-and-radiologic-evaluation
#1
M S Elalfy, R H Aly, H Azzam, K Aboelftouh, R H Shatla, M Tarif, M Abdatty, R M Elsayed
OBJECTIVE: To evaluate the impact of iron chelating drugs and serum ferritin on the neurocognitive functions of patients with β thalassemia major (β-TM), using psychometric, neurophysiologic and radiologic tests. METHODS: Eighty children with β-TM were enrolled into the study and were compared to 40 healthy controls. All participants were evaluated by measuring serum ferritin, neurocognitive assessment by Benton Visual Retention Test, Wechsler Intelligence Scale for Children, Wisconsin Card Sort Test, P300 and magnetic resonance spectroscopy (MRS)...
June 16, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28618753/development-of-a-new-real-time-pcr-screening-kit-for-hbs-and-common-beta-thalassemia-mutations-observed-in-turkey
#2
Derya Kan Karaer, Mehmet Ali Ergün, Hatice Ilgın Ruhi, Jale Öztürk, Halil Kara, Deniz Reisoğlu Çakmak, Talihanur Aydoğmuş, Emriye Ferda Perçin
BACKGROUND/AIM: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. MATERIALS AND METHODS: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#3
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies. METHODS: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28603845/three-novel-hbb-mutations-c-140c-g-90-c-g-c-237_256delggacaacctcaagggcacct-fs-cd-78-85-20%C3%A2-bp-and-c-315-2t-g-ivs2-2-t-g-update-of-the-mutational-spectrum-of-%C3%AE-thalassemia-in-mexican-mestizo-patients
#4
L C Rizo-de-la-Torre, B Ibarra, J Y Sánchez-López, M T Magaña-Torres, V M Rentería-López, F J Perea-Díaz
INTRODUCTION: Beta-thalassemia (β-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population. METHODS: One hundred and forty-nine β-thal Mexican mestizo patients were studied (154 alleles). ARMS-PCR was performed to identify Cd39C>T, IVS1:1G>A, IVS1:110G>A, -28A>C, initiation codonA>G and IVS1:5G>A mutations, and gap-PCR for δβ-thal Spanish type...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28600663/serum-hepcidin-as-a-diagnostic-marker-of-severe-iron-overload-in-beta-thalassemia-major
#5
Ahmed Maher Kaddah, Amina Abdel-Salam, Marwa Salah Farhan, Reham Ragab
OBJECTIVES: To investigate potential usefulness of serum hepcidin in the diagnosis of iron overload in children with β-thalassemia. METHODS: A study was conducted on 30 thalassemia major (TM), 30 thalassemia intermedia (TI) and 60 healthy children as controls. Serum hepcidin was measured by Human Hepcidin, ELISA Kit. RESULTS: β-thalassemia patients had a higher serum hepcidin compared to the controls (p < 0.001). TM group had higher hepcidin and ferritin compared to the TI group (p = 0...
June 10, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28598129/-genotype-of-thalassemia-in-han-chinese-and-tibetans-in-sichuan-province-china
#6
Qian Niu, Xun-Bei Huang, Yun-Fei An, Jun Wang, Hong Jiang
OBJECTIVES: To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. METHODS: A total of 1 147 Han adults and 613 adult Tibetans were included in this study.Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer.Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume (MCV) <85 fL and a mean corpuscular hemoglobin (MCH) <27 pg...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28589785/revisiting-beta-thalassemia-intermedia-past-present-and-future-prospects
#7
Naouel Ben Salah, Rayan Bou-Fakhredin, Fethi Mellouli, Ali T Taher
BACKGROUND: The spectrum of thalassemias is wide ranging from thalassemia minor, which consists of mild hypochromic microcytic anemia without obvious clinical manifestations, to thalassemia major (TM), which is characterized by severe anemia since the first years of life and is transfusion dependent. Thalassemia intermedia (TI) describes those patients with mild or moderate anemia. OBJECTIVE: To describe the genetic features and major clinical complications of TI, and the therapeutic approaches available in the management of this disease...
June 7, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28577647/foxo3-gene-expression-and-oxidative-status-in-beta-thalassemia-minor-subjects
#8
Sandra Stella Lazarte, María Eugenia Mónaco, Magdalena María Terán, Ana Cecilia Haro, Miryam Emilse Ledesma Achem, Blanca Alicia Issé
BACKGROUND: Oxidative stress may aggravate symptoms of hemolytic anemias such as beta-thalassemia. FoxO3 activation results in resistance to oxidative stress in fibroblasts and neuronal cell cultures. OBJECTIVE: The purpose of this research was to study FoxO3 gene expression and oxidative status in beta-thalassemia minor individuals. METHODS: Sixty-three subjects (42 apparently healthy individuals and 21 with beta-thalassemia minor) were analyzed at the Universidad Nacional de Tucumán, Argentina, between September 2013 and June 2014...
April 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28566824/use-of-strain-strain-rate-tissue-velocity-imaging-and-endothelial-function-for-early-detection-of-cardiovascular-involvement-in-patients-with-beta-thalassemia
#9
Abhinav Gupta, Aditya Kapoor, Shubha Phadke, Archana Sinha, Shridhar Kashyap, Roopali Khanna, Sudeep Kumar, Naveen Garg, Satyendra Tewari, Pravin Goel
BACKGROUND: Global ventricular function often remains normal in patients with beta-thalassemia major (β-TM) until late. Tissue Doppler and strain imaging may be useful to assess regional myocardial function abnormalities in these patients. METHODS: Systolic (Sm), early diastolic (Em), and late diastolic (Am) (Em/Am) myocardial velocities at basal lateral and septal left ventricular (LV) segments, strain (S), and strain rate (SR) in basal and mid LV, right ventricular (RV) and septum were measured in 30 patients (β-TM, 12...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28537755/a-pilot-study-of-noninvasive-prenatal-diagnosis-of-alpha-and-beta-thalassemia-with-target-capture-sequencing-of-cell-free-fetal-dna-in-maternal-blood
#10
Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu
AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#11
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28502814/breathless-beta-thalassemia-major
#12
Vasiliki Katsi, Georgios Georgiopoulos, Georgia Vogiatzi, Dimitris Tousoulis
No abstract text is available yet for this article.
May 11, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28485683/cardiac-complications-in-beta-thalassemia-from-mice-to-men
#13
Sirinart Kumfu, Suthat Fucharoen, Siriporn C Chattipakorn, Nipon Chattipakorn
Beta-thalassemia is an inherited hemoglobin disorder caused by reduced or absent synthesis of the beta globin chains of hemoglobin. This results in variable outcomes ranging from clinically asymptomatic to severe anemia, which then typically requires regular blood transfusion. These regular blood transfusions can result in an iron overload condition. The iron overload condition can lead to iron accumulation in various organs, especially in the heart, leading to iron overload cardiomyopathy, which is the major cause of mortality in patients with thalassemia...
June 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28483223/temporal-bone-extramedullary-hematopoiesis-as-a-causeof-pediatric-bilateral-conductive-hearing-loss-case-report-and-review-of-the-literature
#14
Alexander Lanigan, M Taylor Fordham
Extramedullary hematopoiesis occurs in children with hemoglobinopathy and chronic anemia. The liver and spleen are often affected first, but other foci can develop to support erythrocyte demand. We report a case of a nine-year-old with beta thalassemia and temporal bone extramedullary hematopoiesis causing ossicular fixation and bilateral conductive hearing loss. There is only one case in the literature describing this phenomenon in pediatric patients, and this is the first case report of bilateral hearing loss from this physiologic phenomenon...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28461877/thalassemia-review-features-dental-considerations-and-management
#15
REVIEW
Nawal Helmi, Mawahib Bashir, Ayesha Shireen, Iffat Mirza Ahmed
Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis...
March 2017: Electronic Physician
https://www.readbyqxmd.com/read/28456904/myocardial-deformation-in-iron-overload-cardiomyopathy-speckle-tracking-imaging-in-a-beta-thalassemia-major-population
#16
Luca Antonio Felice Di Odoardo, Marianna Giuditta, Elena Cassinerio, Alberto Roghi, Patrizia Pedrotti, Marco Vicenzi, Veronica Maria Sciumbata, Maria Domenica Cappellini, Alberto Pierini
Traditional echocardiography is unable to detect neither the early stages of iron overload cardiomyopathy nor myocardial iron deposition. The aim of the study is to determine myocardial systolic strain indices in thalassemia major (TM), and assess their relationship with T2*, a cardiac magnetic resonance index of the severity of cardiac iron overload. 55 TM cases with recent cardiac magnetic resonance (CMR-T2*) underwent speckle tracking analysis to assess regional myocardial strains and rotation. The results were compared with a normal control group (n = 20), and were subsequently analyzed on the basis of the CMR-T2* values...
April 29, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28450766/coinheritance-of-b-thalassemia-and-sickle-cell-anaemia-in-southwestern-nigeria
#17
Osunkalu Vincent, Bamisaye Oluwaseyi, Babatunde James, Lawal Saidat
BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to homozygous sickle cell disease. MATERIALS AND METHODS: Haemoglobin A2 and HbF were determined in sickle cell anaemia patients attending LAUTECH Teaching Hospital, Osogbo, by elution after electrophoresis and alkaline denaturation methods respectively...
November 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28447426/next-generation-sequencing-as-a-tool-for-breakpoint-analysis-in-rearrangements-of-the-globin-gene-clusters
#18
REVIEW
B E Clark, C Shooter, F Smith, D Brawand, S L Thein
INTRODUCTION: Next-generation sequencing (NGS), now embedded within genomic laboratories, is well suited to the detection of small sequence changes but is less well adapt for detecting structural variants (SV), mainly due to the relatively short sequence reads. Of the available target enrichment methods, bait capture or whole-genome sequencing appears better suited to detecting SV as there is less PCR amplification and is therefore more representative of the genome being sequenced. MATERIAL AND METHODS: In 2015, we described the first inversion/deletion causing εγδβ- thalassemia using an NGS approach, with base-pair resolution...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28428899/watershed-infarct-in-beta-thalassemia-major-patient
#19
Behnaz Ansari, Mohammad Saadatnia, Ali Asghar Okhovat
Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic left internal carotid occlusion, we assumed that severe anemia (hemoglobin = 3) at admission leads to watershed infarct...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28425083/restless-legs-syndrome-willis-ekbom-disease-prevalence-in-beta-thalassemia-patients
#20
Euthimia Dimitriadou, Christoforos D Giannaki, Maria Tsekoura, Ioannis Stefanidis, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Christina Karatzaferi, Giorgos K Sakkas
PURPOSE: Both beta thalassemia and restless legs syndrome (RLS) patients share some common pathophysiological characteristics related to iron handling. In the present study, the aim was to explore the prevalence of RLS as well as to explore potential association between the syndrome and various quality of life-related parameters in a sample of beta thalassemia patients. METHODS: One hundred fourteen (age 40 ± 11 yr, 59 M/55F) beta thalassemia patients participated in this cross-sectional descriptive study...
April 19, 2017: Sleep & Breathing, Schlaf & Atmung
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