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Thalassaemia

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
Paolo Ricchi
No abstract text is available yet for this article.
April 12, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28330551/-thalassaemia-and-pregnancy
#13
Viktoriya Luk'yanenko, Marjoes Droogh, Ulrik Malthe Overgaard
Global migration has resulted in a larger geographical spread of people with risk of hereditary anaemias. This leads to an increased incidence of pregnant women with rare diseases, including thalassaemia also in Scandinavia. Thalassaemia can cause severe anaemia and other complications during pregnancy, like risk of miscarriage, intrauterine fetal death, abruptio, intrauterine growth retardation, hypertension, gestational diabetes and pre-eclampsia. In this article, we focus on the aetiology, assessment, antenatal care and treatment of pregnant women with thalassaemia...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28328415/thalassaemia-in-obstetric-practice-multiple-choice-questions-for-vol-39
#14
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28320041/prevention-of-iron-overload-and-long-term-maintenance-of-normal-iron-stores-in-thalassaemia-major-patients-using-deferiprone-or-deferiprone-deferoxamine-combination
#15
Annita Kolnagou, Christina N Kontoghiorghe, George J Kontoghiorghes
Decrease in mortality and morbidity is observed in thalassaemia major patients with reduced iron load in comparison to heavy iron loaded patients. Effective and complete treatment of transfusional iron overload can be achieved by chelation protocols that can eliminate excess iron and maintain normal iron stores (NIS). The maintenance of NIS, i. e., serum ferritin (350 μg/L >), MRI T2* cardiac (>20 ms) and liver (>6.3 ms) relaxation time levels was monitored in 16 thalassaemia major patients (32-53 years, 12 splenectomized, 10 male, erythrocyte transfusions 120-323 ml/kg/year) for about 90 patient years...
March 20, 2017: Drug Research
https://www.readbyqxmd.com/read/28293406/%C3%AE-thalassemia-distribution-in-the-old-world-an-ancient-disease-seen-from-a-historical-standpoint
#16
REVIEW
Vincenzo De Sanctis, Christos Kattamis, Duran Canatan, Ashraf T Soliman, Heba Elsedfy, Mehran Karimi, Shahina Daar, Yasser Wali, Mohamed Yassin, Nada Soliman, Praveen Sobti, Soad Al Jaouni, Mohamed El Kholy, Bernadette Fiscina, Michael Angastiniotis
BACKGROUND: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β(+)) or absence (β(o)) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28293401/alloimmunization-in-patients-with-sickle-cell-disease-and-thalassemia-experience-of-a-single-centre-in-oman
#17
Salam Alkindi, Saba AlMahrooqi, Sumaiya AlHinai, Ali AlMarhoobi, Saif Al-Hosni, Shahina Daar, Naglaa Fawaz, Anil Pathare
BACKGROUND: Blood transfusion is an integral part of the supportive care for patients with sickle cell disease (SCD) and thalassaemia. The hazard of red cell alloimmunization, however, is one of the main complications of this therapy. OBJECTIVES: The aim of this study was to evaluate the prevalence of red cell alloimmunization in Omani patients with sickle cell anaemia and thalassemia. METHODS: This study included 262 patients whose historical transfusion records were available...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#18
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R Gardner, L Warren, M Jonker
To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013)...
March 1, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28241813/anaemia-in-hospitalised-preschool-children-from-a-rural-area-in-mozambique-a-case-control-study-in-search-for-aetiological-agents
#19
Cinta Moraleda, Ruth Aguilar, Llorenç Quintó, Tacilta Nhampossa, Montserrat Renom, Augusto Nhabomba, Sozinho Acácio, John J Aponte, Delino Nhalungo, Ariel H Achtman, Louis Schofield, Helder Martins, Eusebio Macete, Pedro L Alonso, Clara Menéndez
BACKGROUND: Young children bear the world's highest prevalence of anaemia, the majority of which is of multifactorial aetiology, which in turn hampers its successful prevention. Even moderate degrees of anaemia are associated with increased mortality and morbidity. Despite this evidence, there is a lack of effective preventive programs and absence of consensus in the safety of iron supplementation in malaria areas, which reflects the poor understanding of the contribution of different aetiologies to anaemia...
February 28, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28220744/burden-genotype-and-phenotype-profiles-of-adult-patients-with-sickle-cell-disease-in-cape-town-south-africa
#20
G D Pule, K Mnica, M Joubert, S Mowla, N Novitsky, A Wonkam
BACKGROUND: An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. OBJECTIVES: To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. METHODS: (i) A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globin-like genes cluster, the 3...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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