keyword
MENU ▼
Read by QxMD icon Read
search

Thalassaemia

keyword
https://www.readbyqxmd.com/read/29350657/an-icet-a-survey-on-hypoparathyroidism-in-patients-with-thalassaemia-major-and-intermedia-a-preliminary-report
#1
Vincenzo De Sanctis, Ashraf T Soliman, Duran Canatan, Heba Elsedfy, Mehran Karimi, Shahina Daar, Hala Rimawi, Soteroula Christou, Nicos Skordis, Ploutarchos Tzoulis, Praveen Sobti, Shruti Kakkar, Yurdanur Kilinc, Doaa Khater, Saif A Alyaarubi, Valeriya Kaleva, Su Han Lum, Mohamed A Yassin, Forough Saki, Maha Obiedat, Salvatore Anastasi, Maria Concetta Galati, Giuseppe Raiola, Saveria Campisi, Nada Soliman, Mohamed Elshinawy, Soad Al Jaouni, Salvatore Di Maio, Yasser Wali, Ihab Zaki Elhakim, Christos Kattamis
Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice...
January 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29325430/rapid-and-sensitive-assessment-of-globin-chains-for-gene-and-cell-therapy-of-haemoglobinopathies
#2
Constantinos Christos Loucari, Petros Patsali, Thamar B van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten Werner Lederer, Marina Kleanthous
The β-haemoglobinopathies sickle cell anaemia and β-thalassaemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains, because it indicates the level of anaemia, likely toxicity of excess or aberrant globins, and therapeutic potential of induced or exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile and inexpensive globin quantification, but commonly applied protocols suffer either from long run times, high sample requirements or inability to separate murine from human β-globin chains...
January 12, 2018: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/29301806/inherited-haemochromatosis-with-c282y-mutation-in-a-patient-with-alpha-thalassaemia-a-treatment-dilemma
#3
Mohammed Abdullah Al Qasem, Fayez Hanna, Usira S Vithanarachchi, Alhossain A Khalafallah
A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5 years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. On treating her with the standard iron therapy, her anaemia persists although with adquate iron stores...
January 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29279598/secondary-polycythaemia-in-a-malay-girl-with-homozygous-hb-tak
#4
H S Amran, M A Aziz, E George, N Mahmud, T Y Lee, S Md Noor
Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy...
December 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29259218/no-evidence-that-knops-blood-group-polymorphisms-affect-complement-receptor-1-clustering-on-erythrocytes
#5
O V Swann, E M Harrison, D H Opi, E Nyatichi, A Macharia, S Uyoga, T N Williams, J A Rowe
Clustering of Complement Receptor 1 (CR1) in the erythrocyte membrane is important for immune-complex transfer and clearance. CR1 contains the Knops blood group antigens, including the antithetical pairs Swain-Langley 1 and 2 (Sl1 and Sl2) and McCoy a and b (McCa and McCb), whose functional effects are unknown. We tested the hypothesis that the Sl and McC polymorphisms might influence CR1 clustering on erythrocyte membranes. Blood samples from 125 healthy Kenyan children were analysed by immunofluorescence and confocal microscopy to determine CR1 cluster number and volume...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29211324/non-invasive-prenatal-testing-for-fetal-inheritance-of-maternal-%C3%AE-thalassaemia-mutations-using-targeted-sequencing-and-relative-mutation-dosage-a-feasibility-study
#6
Li Xiong, Angela N Barrett, Rui Hua, Sherry S Y Ho, Li Jun, K C Allen Chan, Zhong Mei, Mahesh Choolani
OBJECTIVE: To evaluate whether targeted sequencing and relative mutation dosage can be used to correctly diagnose inheritance of maternal β-thalassaemia mutations in cell-free DNA. DESIGN: Feasibility study using samples collected in a prenatal clinic. SETTING: South East Asia. POPULATION: Couples where both partners were known to be carriers of one of four common β-thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with β-thalassaemia...
December 6, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29207734/prenatal-screening-for-rare-co-inheritance-of-hbe-and-%C3%AE-thalassaemia-traits-in-western-india
#7
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#8
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29193029/recent-progress-in-understanding-and-manipulating-haemoglobin-switching-for-the-haemoglobinopathies
#9
REVIEW
Divya S Vinjamur, Daniel E Bauer, Stuart H Orkin
The major β-haemoglobinopathies, sickle cell disease and β-thalassaemia, represent the most common monogenic disorders worldwide and a steadily increasing global disease burden. Allogeneic haematopoietic stem cell transplantation, the only curative therapy, is only applied to a small minority of patients. Common clinical management strategies act mainly downstream of the root causes of disease. The observation that elevated fetal haemoglobin expression ameliorates these disorders has motivated longstanding investigations into the mechanisms of haemoglobin switching...
November 28, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29181452/prevalences-of-inherited-red-blood-cell-disorders-in-pregnant-women-of-different-ethnicities-living-along-the-thailand-myanmar-border
#10
Germana Bancone, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, Aung Myat Min, Prakaykaew Charunwatthana, Verena I Carrara, Nicholas J White, Francois Nosten, Rose McGready
Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies  among the pregnant population living along the Thailand-Myanmar border...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29181137/transfusion-related-acute-lung-injury-trali-in-two-thalassaemia-patients-caused-by-the-same-multiparous-blood-donor
#11
Annita Kolnagou, Christina N Kontoghiorghe, George J Kontoghiorghes
We report two separate episodes of transfusion-related acute lung injury (TRALI) in two thalassaemia patients who received red blood cell transfusions from the same multiparous donor. Both cases had the same symptomatology and occurred within 60 minutes of transfusion. The patients presented dyspnoea, sweating, fatigue, dizziness, fever, and sense of losing consciousness. The chest x-ray showed a pulmonary oedema-like picture with both lungs filled with fluid. The patients were treated in the intensive therapy unit...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29173833/effect-of-parental-depression-level-on-children-s-quality-of-life-after-haematopoietic-stem-cell-transplantation
#12
Zeynep Kisecik Sengul, Naime Altay
PURPOSE: This descriptive cross-sectional study aimed to determine the impact of parental depression level on children's quality of life after haematopoietic stem cell transplantation (HSCT). METHOD: This study was conducted in a bone marrow transplantation unit of a children's hospital in Ankara, Turkey. The research sample consisted of 82 parents. Children aged 2-18 years and monitored in polyclinics 100 days after HSCT were included in the study. A sociodemographic data form, parent forms of the Pediatric Quality of Life Inventory, and the Beck Depression Inventory (BDI) were used...
December 2017: European Journal of Oncology Nursing: the Official Journal of European Oncology Nursing Society
https://www.readbyqxmd.com/read/29132487/delta-beta-thalassaemia-in-a-pathan-family
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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)
keyword
keyword
29874
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"