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https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#1
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28502664/the-utility-of-susceptibility-weighted-imaging-to-evaluate-the-extent-of-iron-accumulation-in-the-choroid-plexus-of-patients-with-%C3%AE-thalassaemia-major
#2
Z I Hasiloglu, M Asik, E Ure, F Ertem, H Apak, S Albayram
AIM: To assess iron accumulation in the choroid plexus of β-thalassaemia patients using fast spin echo (FSE) T2-weighted, gradient echo (GRE) T2*-weighted, susceptibility-weighted imaging (SWI) and compare the results. MATERIALS AND METHODS: Eighteen patients with transfusion-dependent β-thalassaemia and the control group underwent magnetic resonance imaging (MRI) examinations. Signal intensities were separately evaluated using a "number of hypointensity in the choroid plexus" (NHICP) grading system on axial FSE T2-weighted, GRE T2*-weighted, and SWI images...
May 11, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#3
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
May 8, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28471307/complications-pattern-and-burden-of-the-disease-in-patients-affected-by-beta-thalassaemia-major
#4
Fedele Bonifazi, Rosa Conte, Paola Baiardi, Donato Bonifazi, Mariagrazia Felisi, Paola Giordano, Viviana Giannuzzi, Angela Iacono, Rosa Padula, Alessia Pepe, Maria Caterina Putti, Lucia Ruggieri, Giovanni Carlo Del Vecchio, Aldo Filosa, Aurelio Maggio, Adriana Ceci
OBJECTIVES: Despite the correct application of blood transfusions and chelation treatments, beta-thalassaemia patients have many complications. Systematic population analyses on types and frequency of these complications are very few. The aim of this study is to characterize the complications,their risk factors and their clinical and economic impact. METHODS: Complications at baseline and events occurred during 1 observational year were analysed in 272 patients aged >12 years...
May 4, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28466968/clinical-and-genetic-predictors-of-renal-dysfunctions-in-sickle-cell-anaemia-in-cameroon
#5
Amy Geard, Gift D Pule, Bernard Chetcha Chemegni, Valentina J Ngo Bitoungui, Andre P Kengne, Emile R Chimusa, Ambroise Wonkam
Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811)...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28460154/hepatitis-b-infection-acquired-after-haematopioetic-stem-cell-transplant-through-horizontal-mode
#6
Martin Cw Chan, Frankie Wt Cheng, Kin Ho Sze, Ann H Wong, Alex Wk Leung, Paul Ks Chan, Chi Kong Li
A 22-month old child with thalassaemia major received unrelated umbilical cord blood transplantation. She was born to mother of HBsAg carrier and received hepatitis B immunoglobulin at birth and hepatitis B vaccination. She was HBsAg negative and anti-HBs positive before transplantation. After transplant, she was taken care by her mother and found to be HBsAg positive at 2 year post-transplant. Genotyping of the mother's and child's HBV status confirmed to be of same genotype and demonstrated horizontal transmission in post-transplant setting...
April 29, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28450766/coinheritance-of-b-thalassemia-and-sickle-cell-anaemia-in-southwestern-nigeria
#7
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/28446301/-analysis-of-gene-mutation-types-of-thalassemia-in-longyan-area-of-fujian-province-in-china
#8
Qing-Fu Dai, Xiao-Lu Li, Yu-Xia Wang, Chun-Fang Cao
OBJECTIVE: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects. METHODS: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB)...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28439915/treatment-of-chronic-hepatitis-c-with-direct-acting-antivirals-in-patients-with-%C3%AE-thalassaemia-major-and-advanced-liver-disease
#9
Emmanouil Sinakos, Dimitrios Kountouras, John Koskinas, Kalliopi Zachou, Stylianos Karatapanis, Christos Triantos, Themistoklis Vassiliadis, Ioannis Goulis, Alexandra Kourakli, Efthymia Vlachaki, Barbara Toli, Maria Tampaki, Pinelopi Arvaniti, Georgios Tsiaoussis, Aristea Bellou, Antonis Kattamis, Konstantinos Maragkos, Foteini Petropoulou, George N Dalekos, Evangelos Akriviadis, George V Papatheodoridis
Interferon-based regimens for chronic hepatitis C (CHC) were often deferred in patients with β-thalasaemia major (β-TM) due to poor efficacy and tolerance. Current guidelines recommend direct-acting antivirals (DAAs) for these patients. The aim of this study was to assess the safety and efficacy of DAAs in patients with β-TM and advanced liver disease due to CHC. Patients were recruited from eight liver units in Greece. The stage of liver disease was assessed using transient elastography and/or liver histology...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28439891/the-new-era-of-chelation-treatments-effectiveness-and-safety-of-10-different-regimens-for-controlling-iron-overloading-in-thalassaemia-major
#10
REVIEW
Rosario Di Maggio, Aurelio Maggio
This review outlines the effectiveness and safety of 10 different regimens for controlling iron overloading in thalassaemia major (TM). For each treatment, the strength of the evidence was documented according to the guidelines of the American College of Cardiology and the American Heart Association. Serum ferritin (SF), liver iron concentration (LIC), heart T2* signal, heart damage and survival were used to assess effectiveness. Five chelation regimens out of 10 showed Level A Evidence in controlling iron overloading, as determined by SF levels and LIC...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#11
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#12
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
April 17, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28413201/detection-of-%C3%AE-thalassaemia-in-neonates-on-cord-blood-and-dried-blood-spot-samples-by-capillary-electrophoresis
#13
H Alauddin, M Langa, M Mohd Yusoff, R Z A Raja Sabudin, A Ithnin, N F Abdul Razak, N H Sardi, N H Hussin
INTRODUCTION: Haemoglobin Bart's (Hb Bart's) level is associated with α-thalassaemia traits in neonates, enabling early diagnosis of α-thalassaemia. The study aimed to detect and quantify the Hb Bart's using Cord Blood (CB) and CE Neonat Fast Hb (NF) progammes on fresh and dried blood spot (DBS) specimen respectively by capillary electrophoresis (CE). METHODS: Capillarys Hemoglobin (E) Kit (for CB) and Capillarys Neonat Hb Kit (for NF) were used to detect and quantify Hb Bart's by CE in fresh cord blood and dried blood spot (DBS) specimens respectively...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28399541/extramedullary-haematopoiesis-in-patients-with-thalassaemia-major-should-we-search-for-it-regularly
#14
Paolo Ricchi
No abstract text is available yet for this article.
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#15
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#16
Kalinga Khemal Nanayakkara, Undugodage Ganganath Rodrigo, Kuda Liyanage Nandika Perera, Chinthani Deepthi Nanayakkara
Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners...
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28385923/phenotype-of-mutations-in-the-promoter-region-of-the-%C3%AE-globin-gene
#17
Paloma Ropero, Sara Erquiaga, Beatriz Arrizabalaga, Germán Pérez, Silvia de la Iglesia, María José Torrejón, Celia Gil, Cela Elena, María Tenorio, Jorge M Nieto, Félix de la Fuente-Gonzalo, Ana Villegas, Fernando-Ataúlfo González Fernández, Rafael Martínez
BACKGROUND: β(+)-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far...
April 6, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28384880/efficacy-of-deferasirox-as-an-oral-iron-chelator-in-paediatric-thalassaemia-patients
#18
Shikha Jaiswal, Rajesh Hishikar, Onkar Khandwal, Manju Agarwal, Usha Joshi, Ajay Halwai, Basant Maheshwari, Raka Sheohare
INTRODUCTION: Thalassaemia Major patients require frequent blood transfusion leading to iron overload. Excessive iron gets deposited in vital organs and leads to dysfunction of the heart, liver, anterior pituitary, pancreas, and joints. Our body has limited mechanism to excrete iron, so patients with iron overload and its complications need safe and effective iron chelation therapy. AIM: To assess the efficacy of Deferasirox (DFX) as an iron chelator, with specific reference to reduction in serum ferritin level...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28371817/rheumatological-complications-of-beta-thalassaemia-an-overview
#19
Mohammad Hassan A Noureldine, Ali T Taher, Ali A Haydar, Ahmad Berjawi, Munther A Khamashta, Imad Uthman
Beta-thalassaemia, an autosomal recessive haemoglobinopathy, ranks among the most frequent monogenetic diseases globally. The severe form of the disease, beta-thalassaemia major, is accompanied by progressive involvement of multiple organ systems as a result of the disease pathophysiology as well as iron overload from blood transfusions on a regular basis. Some of the manifestations might also be caused by medications used to manage iron overload. The purpose of this review is to highlight the rheumatological complications of beta-thalassaemia, which include musculoskeletal manifestations, such as arthritis and arthropathies, joint effusions, osteoporosis, bone fractures and myalgias, in addition to CTDs, such as pseudoxanthoma elasticum...
March 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28347454/minerals-in-thalassaemia-major-patients-an-overview
#20
REVIEW
Zeynep Ozturk, Gizem Esra Genc, Saadet Gumuslu
Thalassaemia major (TM) is a hereditary blood disease characterised by reduced or absent production of beta globin chains. Erythrocyte transfusions are given to raise the haemoglobin level in patients with thalassaemia major. However, transfusions have been related to increased risk of iron overload and tissue damage related to excess iron. Both elevated oxidative stress due to iron overload and increased hemolysis lead to over utilisation of minerals required for antioxidant enzymes activities. Iron chelators have been used to prevent iron overload in thalassaemia major patients, but these chelators have the possibility of removing minerals from the body...
May 2017: Journal of Trace Elements in Medicine and Biology
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