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Thalassaemia

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https://www.readbyqxmd.com/read/29132487/delta-beta-thalassaemia-in-a-pathan-family
#1
Saqib Qayyum Ahmad, Saerah Iffat Zafar, Hamid Saeed Malik, Suhaib Ahmed
Delta-beta-thalassaemia (δβ-thalassaemia) is a rare type of thalassaemia which mostly results from deletion of δ and β genes with preservation of γ genes. δβ-thalassaemia is classified into (δβ)+ and (δβ)0 types. The (δβ)0-thalassemia is further divided into GγAγ(δβ)0-thalassaemia and Gγ(Aγδβ)0-thalassaemia. In heterozygous state, (δβ)0mutations give rise to phenotype resembling β-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F...
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#2
Axel Ruefer, Christine Bapst, Rudolf Benz, Jens Bremerich, Nathan Cantoni, Laura Infanti, Kaveh Samii, Mathias Schmid, Jean-Paul Vallée
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify the cause of hyperferritinaemia...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29079595/long-term-safety-of-deferiprone-treatment-in-children-from-the-mediterranean-region-with-beta-thalassaemia-major-the-deep-3-multi-centre-observational-safety-study
#3
Sebastian Botzenhardt, Mariagrazia Felisi, Donato Bonifazi, Giovanni Carlo Del Vecchio, Maria Caterina Putti, Antonis Kattamis, Adriana Ceci, Ian Ck Wong, Antje Neubert
No abstract text is available yet for this article.
October 27, 2017: Haematologica
https://www.readbyqxmd.com/read/29019038/utilisation-and-safety-of-deferasirox-results-from-an-observational-cohort-study-in-england
#4
Vicki Osborne, Miranda Davies, Deborah Layton, Saad A W Shakir
INTRODUCTION: Deferasirox (EXJADE(®), Novartis, UK) is an oral iron-chelating agent primarily used to reduce chronic iron overload in patients receiving blood transfusions for various chronic anaemias and some non-transfusion dependant anaemias. OBJECTIVE: The aim of this study was to examine the utilisation and safety of deferasirox used in general practice in England. METHOD: A single exposure observational cohort study design was used...
October 10, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28983712/arhgap18-is-a-novel-gene-under-positive-natural-selection-that-influences-hbf-levels-in-%C3%AE-thalassaemia
#5
Yunyan He, Jianming Luo, Yang Chen, Xiaoheng Zhou, Shanjuan Yu, Ling Jin, Xuan Xiao, Siyuan Jia, Qiang Liu
Foetal haemoglobin (HbF) plays a dominant role in ameliorating the morbidity and mortality of β-thalassaemia. A better understanding of the loci and genes involved in HbF expression would be beneficial for the treatment of β-thalassaemia major. However, the genes associated with HbF expression remain largely unknown. In this study, we first explored large-scale data sets and examined the human genome for evidence of positive natural selection to screen out single nucleotide polymorphisms (SNPs). A genetic analysis of HbF levels was conducted in a Chinese cohort of patients with β-thalassaemia to confirm the bioinformatics results...
October 5, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28955081/awareness-about-swine-flu-h1n1-influenza-virus-among-the-tertiary-population-of-lahore-pakistan
#6
Rehan Ahmad Khan Sherwani
The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86...
October 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28930590/chelation-protocols-for-the-elimination-and-prevention-of-iron-overload-in-thalassaemia
#7
Annita Kolnagou, George John Kontoghiorghes
Iron overload toxicity is the main cause of mortality and morbidity in thalassaemia patients. The complete elimination and prevention of iron overload is the main aim of chelation therapy, which can be achieved by chelation protocols that can effectively remove excess iron load and maintain body iron at normal levels. Deferiprone and selected combinations with deferoxamine can be designed, adjusted and used effectively for removing all excess stored iron and for maintaining normal iron stores (NIS) in different categories of thalassaemia patients...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930516/new-targeted-therapies-and-diagnostic-methods-for-iron-overload-diseases
#8
Annita Kolnagou, Christina N Kontoghiorghe, George John Kontoghiorghes
Millions of people worldwide suffer from iron overload toxicity diseases such as transfusional iron overload in thalassaemia and hereditary haemochromatosis. The accumulation and presence of toxic focal iron deposits causing tissue damage can also be identified in Friedreich's ataxia, Alzheimer's, Parkinson's, renal and other diseases. Different diagnostic criteria of toxicity and therapeutic interventions apply to each disease of excess or misplaced iron. Magnetic resonance imaging relaxation times T2 and T2* for monitoring iron deposits in organs and iron biomarkers such as serum ferritin and transferrin iron saturation have contributed in the elucidation of iron toxicity mechanisms and pathways, and also the evaluation of the efficacy and mode of action of chelating drugs in the treatment of diseases related to iron overload, toxicity and metabolism...
January 1, 2018: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/28924289/knowledge-attitude-and-practices-kap-of-the-families-of-b-thalassaemia-children-in-thalassaemia-centers-of-rawalpindi-and-islamabad-pakistan
#9
Aamir Shahzad, Nazia Rafiq, Ikram Ullah, Muhammad Javaid Asad, Muhammad Sheeraz Ahmad, Usman Waheed
The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#10
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
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
#11
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/28891172/urolithiasis-is-prevalent-and-associated-with-reduced-bone-mineral-density-in-%C3%AE-thalassaemia-major
#12
Phillip Wong, Frances Milat, Peter J Fuller, Peter G Kerr, James C G Doery, Danielle H Oh, Dana Jackson, Matthew T Gillespie, Donald K Bowden, Sant-Rayn Pasricha, Ken K Lau
Asymptomatic urolithiasis is common and of mixed composition in patients with β-thalassaemia major. Twenty-seven subjects were imaged using dual-energy computer tomography to determine the presence and composition of urolithiasis. The prevalence of urolithiasis was 59% and affected patients generally had multiple stones, often with more than one component: struvite (33%), calcium oxalate (31%) and cystine (22%). Hypercalciuria was present in 78% of subjects and calcium-containing urolithiasis was associated with reduced femoral neck Z scores...
September 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28891120/hepatitis-e-in-transfusion-dependent-thalassaemia-patients-in-greece-a-single-centre-experience
#13
P Klonizakis, G Gioula, M Exindari, C Apostolou, A Kotsiafti, E Vlachaki
Hepatitis E is considered an emerging disease that may be a threat in both developing and industrialized countries all over the world. The risk of chronic hepatitis E virus infection is higher among immunocompromised patients. This study aimed to assess the status of hepatitis E infection in patients with transfusion-dependent thalassaemia from a single centre, in Greece. Our results suggest that the prevalence of hepatitis E infection in this group of patients is low.
September 10, 2017: Vox Sanguinis
https://www.readbyqxmd.com/read/28862373/sociodemographic-profile-and-oral-health-status-of-thalassemic-patients-attending-the-national-thalassaemia-centre-kurunegala-sri-lanka
#14
Wickramasooriyage Nandana Kularatne, Rasika M Jayasinghe, Mahinda Chandika Diyunugala, Dayananda Bandara, Sachith Abeysundara, Irosha Perera
AIM: The aim of the present study was to investigate the sociodemographic profile and oral health status (Decayed, Missing, Filled Teeth [DMFT] and periodontal health) of thalassemic patients compared to healthy individuals. METHODS: The data were collected by means of an interviewer-administered, pretested, and validated questionnaire, followed by oral examination. Patients attending the outpatient department, who were age and sex matched, but without any diagnosed or suspected long-term illnesses, were considered for the control group...
September 1, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28854204/impact-of-the-two-dose-rubella-vaccination-regimen-on-incidence-of-rubella-seronegativity-in-gravidae-aged-25-years-and-younger
#15
Shuk Yi Annie Hui, Daljit S Sahota, Terence T Lao
OBJECTIVE: This study compared the incidence of rubella seronegativity among gravidae of 25 year-old and younger, between those born in Hong Kong after 1983 when the two-dose rubella vaccination was implemented, versus gravidae born before, to examine the impact of the two-dose regimen. METHODS: In this retrospective cohort study, the incidence of antenatal rubella seronegativity in our parturients managed in1997-2015 was analysed by their age from ≤16 to 25 years, and the effect of year of birth was determined adjusting for confounding factors including teenage status, obstetric history, anthropometric factors, and health parameters including anaemia, thalassaemia trait and hepatitis B carrier status...
2017: PloS One
https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#16
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28805329/editorial-good-news-to-patients-with-thalassaemia-hcv-clearance-made-easy-with-direct-acting-antivirals
#17
EDITORIAL
R D'Ambrosio, P Lampertico
No abstract text is available yet for this article.
September 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28805326/editorial-good-news-to-patients-with-thalassaemia-hcv-clearance-made-easy-with-direct-acting-antivirals-authors-reply
#18
EDITORIAL
A Mangia, V Piazzolla, R Santoro
No abstract text is available yet for this article.
September 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28801322/portal-vein-aneurysm-in-thalassaemia
#19
Simi Das, Mousam Dey, Vinay Kumar, Hira Lal
Arterial aneurysms are more common than visceral venous aneurysms. Portal vein aneurysms being the most common type of visceral venous aneurysms. Here, we present an 18-year-old young woman with thalassaemia major, who presented with headache, palpitation, shortness of breath and a recent increase in blood transfusion rate. On clinical examination, she had hepatosplenomegaly. Ultrasonography revealed hepatosplenomegaly with fusiform dilatation of extrahepatic portal vein, which was confirmed to be portal vein aneurysm on contrast enhanced CT...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28794124/phenotypic-evaluations-of-hbb-c-93-23t-c-a-nucleotide-substitution-in-the-ivs-i-nt-108-of-%C3%AE-globin-gene
#20
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona
BACKGROUND: Thalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide. AIMS: To develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thalassaemia. METHODS: Sequencing analysis was used to obtain complete data on gene structure and to correlate specific phenotypic expression with mutations, especially for new or very rare mutations in globin genes...
August 9, 2017: Journal of Clinical Pathology
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