keyword
MENU ▼
Read by QxMD icon Read
search

Thalassaemia

keyword
https://www.readbyqxmd.com/read/27922147/factors-affecting-quality-of-life-in-adult-patients-with-thalassaemia-major-and-intermedia
#1
Gin Gin Gan, Yuen Ling Hue, Jameela Sathar
No abstract text is available yet for this article.
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27917462/iron-overload-across-the-spectrum-of-non-transfusion-dependent-thalassaemias-role-of-erythropoiesis-splenectomy-and-transfusions
#2
John B Porter, Maria Domenica Cappellini, Antonis Kattamis, Vip Viprakasit, Khaled M Musallam, Zewen Zhu, Ali T Taher
Non-transfusion-dependent thalassaemias (NTDT) encompass a spectrum of anaemias rarely requiring blood transfusions. Increased iron absorption, driven by hepcidin suppression secondary to erythron expansion, initially causes intrahepatic iron overload. We examined iron metabolism biomarkers in 166 NTDT patients with β thalassaemia intermedia (n = 95), haemoglobin (Hb) E/β thalassaemia (n = 49) and Hb H syndromes (n = 22). Liver iron concentration (LIC), serum ferritin (SF), transferrin saturation (TfSat) and non-transferrin-bound iron (NTBI) were elevated and correlated across diagnostic subgroups...
December 5, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#3
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27892944/veno-occlusive-disease-sinusoidal-obstruction-syndrome-after-haematopoietic-stem-cell-transplantation-middle-east-north-africa-regional-consensus-on-prevention-diagnosis-and-management
#4
A H Al Jefri, H Abujazar, A Al-Ahmari, A Al Rawas, Z Al Zahrani, A Alhejazi, M A Bekadja, A Ibrahim, M Lahoucine, S Ousia, A Bazarbachi
Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) of the liver is a serious, early complication of haematopoietic stem cell transplantation (HSCT), severe and very severe forms of which are associated with a high mortality rate. A wide variety of patient, disease and treatment-related risk factors for VOD/SOS have been identified. Several bodies have published recommendations for the diagnosis, prevention and management of VOD/SOS following HSCT. A group of regional experts have developed a consensus statement on the diagnosis, prevention and management of VOD/SOS in the Middle East and North Africa region to help in the management of HSCT patients in the region...
November 28, 2016: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#5
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#6
Sarah Allegra, Silvia De Francia, Filomena Longo, Davide Massano, Jessica Cusato, Arianna Arduino, Elisa Pirro, Antonio Piga, Antonio D'Avolio
We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software...
November 20, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27859648/limitations-of-serum-ferritin-to-predict-liver-iron-concentration-responses-to-deferasirox-therapy-in-patients-with-transfusion-dependent-thalassemia
#7
John B Porter, Mohsen Elalfy, Ali Taher, Yesim Aydinok, Szu-Hee Lee, Pranee Sutcharitchan, Ali El-Ali, Jackie Han, Amal El-Beshlawy
BACKGROUND: In transfusion-dependent anaemias, while absolute serum ferritin levels broadly correlate with liver iron concentration (LIC), relationships between trends in these variables are unclear. These relationships are important because serum ferritin changes are often used to adjust or switch chelation regimens when liver magnetic resonance imaging (MRI) is unavailable. OBJECTIVES AND METHODS: This post-hoc analysis of the EPIC study compared serum ferritin and LIC in 317 patients with transfusion-dependent thalassaemia before and after 1 year of deferasirox...
November 17, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27847257/new-trend-in-the-epidemiology-of-thalassaemia
#8
REVIEW
Chi-Kong Li
Thalassaemia is the most common monogenic disorder worldwide. It is common in areas with prevalent malaria as thalassaemic red cells provide immunity against the parasite. The incidence of thalassaemia carriers is high in regions such as Mediterranean, Middle East, Indian subcontinent, Southeast Asia and South China. In the past few decades, migrants from the thalassaemia prevalent countries to non-prevalent countries, mainly North America and Central and North Europe, are rapidly increasing in number. The non-prevalent countries may not have established pre-natal screening system for thalassaemia...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27820943/crispr-cas9-%C3%AE-globin-gene-targeting-in-human-haematopoietic-stem-cells
#9
Daniel P Dever, Rasmus O Bak, Andreas Reinisch, Joab Camarena, Gabriel Washington, Carmencita E Nicolas, Mara Pavel-Dinu, Nivi Saxena, Alec B Wilkens, Sruthi Mantri, Nobuko Uchida, Ayal Hendel, Anupama Narla, Ravindra Majeti, Kenneth I Weinberg, Matthew H Porteus
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells...
November 7, 2016: Nature
https://www.readbyqxmd.com/read/27796853/newborn-screening-for-sickle-cell-disease-in-jamaica-logistics-and-experience-with-umbilical-cord-samples
#10
G R Serjeant, B E Serjeant, K P Mason, R Gardner, L Warren, F Gibson, M Coombs
The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin)...
October 29, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27790543/avascular-necrosis-of-femoral-head-in-a-child-with-beta-thalassaemia-major
#11
Adharsh Narain Thulasidhar, Sandeep Kumar, Shrikiran Aroor, Suneel Mundkur
No abstract text is available yet for this article.
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27782131/in-vivo-correction-of-anaemia-in-%C3%AE-thalassemic-mice-by-%C3%AE-pna-mediated-gene-editing-with-nanoparticle-delivery
#12
Raman Bahal, Nicole Ali McNeer, Elias Quijano, Yanfeng Liu, Parker Sulkowski, Audrey Turchick, Yi-Chien Lu, Dinesh C Bhunia, Arunava Manna, Dale L Greiner, Michael A Brehm, Christopher J Cheng, Francesc López-Giráldez, Adele Ricciardi, Jagadish Beloor, Diane S Krause, Priti Kumar, Patrick G Gallagher, Demetrios T Braddock, W Mark Saltzman, Danith H Ly, Peter M Glazer
The blood disorder, β-thalassaemia, is considered an attractive target for gene correction. Site-specific triplex formation has been shown to induce DNA repair and thereby catalyse genome editing. Here we report that triplex-forming peptide nucleic acids (PNAs) substituted at the γ position plus stimulation of the stem cell factor (SCF)/c-Kit pathway yielded high levels of gene editing in haematopoietic stem cells (HSCs) in a mouse model of human β-thalassaemia. Injection of thalassemic mice with SCF plus nanoparticles containing γPNAs and donor DNAs ameliorated the disease phenotype, with sustained elevation of blood haemoglobin levels into the normal range, reduced reticulocytosis, reversal of splenomegaly and up to 7% β-globin gene correction in HSCs, with extremely low off-target effects...
October 26, 2016: Nature Communications
https://www.readbyqxmd.com/read/27766631/pulmonary-dysfunction-in-thalassaemia-major-is-there-any-relationship-with-body-iron-stores
#13
Francesca Guidotti, Gioia Piatti, Alessia Marcon, Elena Cassinerio, Marianna Giuditta, Alberto Roghi, Valter Fasano, Dario Consonni, Maria Domenica Cappellini
Although pulmonary function abnormalities in thalassaemia major (TM) were described in 1980, the pathogenetic mechanism is not clear and data are contradictory, probably because of study heterogeneity and the multifactorial nature of the pathogenesis. We retrospectively analysed 73 adult TM patients to evaluate the prevalence of pulmonary dysfunction in adult TM and investigate relationships with iron load. All patients underwent body plethysmography and carbon monoxide diffusion (DLCO) was assessed in 63, in addition to blood tests, echocardiogram and T2* myocardial and liver magnetic resonance imaging...
October 21, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27755646/hydroxyurea-for-reducing-blood-transfusion-in-non-transfusion-dependent-beta-thalassaemias
#14
REVIEW
Wai Cheng Foong, Jacqueline J Ho, C Khai Loh, Vip Viprakasit
BACKGROUND: Non-transfusion dependent beta thalassaemia is a subset of inherited haemoglobin disorders characterised by reduced production of the beta globin chain of the haemoglobin molecule leading to anaemia of varying severity. Although blood transfusion is not a necessity for survival, it is required when episodes of chronic anaemia occur. This chronic anaemia can impair growth and affect quality of life. People with non-transfusion dependent beta thalassaemia suffer from iron overload due to their body's increased capability of absorbing iron from food sources...
October 18, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27750457/the-pitfall-of-antenatal-thalassaemia-screening
#15
Tsz Kin Lo
No abstract text is available yet for this article.
October 17, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27748517/the-expanding-role-of-the-clinical-haematologist-in-the-new-world-of-advanced-therapy-medicinal-products
#16
Mark W Lowdell, Amy Thomas
Advanced therapy medicinal products (ATMPs) represent the current pinnacle of 'patient-specific medicines' and will change the nature of medicine in the near future. They fall into three categories; somatic cell-therapy products, gene therapy products and cells or tissues for regenerative medicine, which are termed 'tissue engineered' products. The term also incorporates 'combination products' where a human cell or tissue is combined with a medical device. Plainly, many of these new medicines share similarities with conventional haematological stem cell transplant products and donor lymphocyte infusions as well as solid organ grafts and yet ATMPs are regulated as medicines and their development has remained predominantly in academic settings and within specialist centres...
October 17, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27748513/the-era-of-comparable-life-expectancy-between-thalassaemia-major-and-intermedia-is-it-time-to-revisit-the-major-intermedia-dichotomy
#17
Angela Vitrano, Giuseppina Calvaruso, Eliana Lai, Grazia Colletta, Alessandra Quota, Calogera Gerardi, Luciana Concetta Rigoli, Lorella Pitrolo, Liana Cuccia, Francesco Gagliardotto, Aldo Filosa, Vincenzo Caruso, Crocetta Argento, Saveria Campisi, Michele Rizzo, Luciano Prossomariti, Carmelo Fidone, Maria Fustaneo, Rosario Di Maggio, Aurelio Maggio
In the last few decades, the life expectancy of regularly transfused β-thalassaemia major (TM) patients has dramatically improved following the introduction of safe transfusion practices, iron chelation therapy, aggressive treatment of infections and improved management of cardiac complications. How such changes, especially those attributed to the introduction of iron chelation therapy, improved the survival of TM patients to approach those with β-thalassaemia intermedia (TI) remains unknown. Three hundred and seventy-nine patients with TM (n = 284, dead 40) and TI (n = 95, dead 13) were followed retrospectively since birth until 30 June 2015 or death...
October 17, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27723451/platelet-haemostatic-properties-in-%C3%AE-thalassaemia-the-effect-of-blood-transfusion
#18
Alice Trinchero, Marina Marchetti, Cinzia Giaccherini, Carmen J Tartari, Laura Russo, Anna Falanga
BACKGROUND: Patients with thalassaemia may have thromboembolic events and, even without thrombosis, they have a subclinical hypercoagulable state. In this setting, several coagulation laboratory abnormalities have been described, but thus far no studies have explored the contribution of platelet adhesive and procoagulant properties to blood clotting activation. In this study, we dissected the platelet procoagulant effect and influence of blood transfusions on haemostasis and platelet function in thalassaemic patients...
October 4, 2016: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/27718361/the-regulation-of-human-globin-promoters-by-ccaat-box-elements-and-the-recruitment-of-nf-y
#19
Gabriella E Martyn, Kate G R Quinlan, Merlin Crossley
CCAAT boxes are motifs found within the proximal promoter of many genes, including the human globin genes. The highly conserved nature of CCAAT box motifs within the promoter region of both α-like and β-like globin genes emphasises the functional importance of the CCAAT sequence in globin gene regulation. Mutations within the β-globin CCAAT box result in β-thalassaemia, while mutations within the distal γ-globin CCAAT box cause the Hereditary Persistence of Foetal Haemoglobin, a benign condition which results in continued γ-globin expression during adult life...
October 5, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27713668/interventions-for-improving-adherence-to-iron-chelation-therapy-in-people-with-sickle-cell-disease-or-thalassaemia
#20
REVIEW
Patricia M Fortin, Karen V Madgwick, Marialena Trivella, Sally Hopewell, Carolyn Doree, Lise J Estcourt
This is the protocol for a review and there is no abstract. The objectives are as follows: To identify and assess the effectiveness of interventions to improve adherence to iron chelation therapy compared to standard care in people with SCD or thalassaemia including: identifying and assessing the effectiveness of different types of interventions (psychological and psychosocial, educational, medication interventions, or multi-component interventions);identifying and assessing the effectiveness of interventions specific to different age groups (children, adolescents, adults)...
September 2016: Cochrane Database of Systematic Reviews
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"