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https://www.readbyqxmd.com/read/27909215/cure-for-thalassemia-major-from-allogeneic-hematopoietic-stem-cell-transplantation-to-gene-therapy
#1
Alok Srivastava, Ramachandran V Shaji
Allogeneic hematopoietic stem cell transplantation has been established for several decades as a gene replacement therapy for patients with thalassemia major and now offers very high rates of cure to those who are able to access this therapy. Outcomes have improved tremendously over the last decade even in high-risk patients. The limited data available suggests that the long-term outcome is also excellent with >90% survival but for best results, hematopoietic stem cell transplantation should be offered early before any end organ damage occurs...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#2
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/27900452/microparticles-from-splenectomized-%C3%AE-thalassemia-hbe-patients-play-roles-on-procoagulant-activities-with-thrombotic-potential
#3
Phatchanat Klaihmon, Kunwadee Phongpao, Wasinee Kheansaard, Egarit Noulsri, Archrob Khuhapinant, Suthat Fucharoen, Noppawan Phumala Morales, Saovaros Svasti, Kovit Pattanapanyasat, Pornthip Chaichompoo
Thromboembolic events including cerebral thrombosis, deep vein thrombosis, and pulmonary embolism are major complications in β-thalassemia. Damaged red blood cells and chronic platelet activation in splenectomized β-thalassemia/HbE patients were associated with increased microparticles (MPs) releases into blood circulation. MPs are small membrane vesicles, which play important roles on coagulation. However, the role of MP in thalassemia is poorly understood. In this study, the effects of splenectomized-MPs on platelet activation and aggregation were investigated...
November 29, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#4
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27891535/gene-therapy-for-hemoglobin-disorders-a-mini-review
#5
Parul Rai, Punam Malik
Gene therapy by either gene insertion or editing is an exciting curative therapeutic option for monogenic hemoglobin disorders like sickle cell disease and β-thalassemia. The safety and efficacy of gene transfer techniques has markedly improved with the use of lentivirus vectors. The clinical translation of this technology has met with good success, although key limitations include number of engraftable transduced hematopoietic stem cells and adequate transgene expression that results in complete correction of β0 thalassemia major...
2016: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/27885340/acute-kidney-injury-in-hematopoietic-stem-cell-transplantation-a-review
#6
REVIEW
Vinod Krishnappa, Mohit Gupta, Gurusidda Manu, Shivani Kwatra, Osei-Tutu Owusu, Rupesh Raina
Hematopoietic stem cell transplantation (HSCT) is a highly effective treatment strategy for lymphoproliferative disorders and bone marrow failure states including aplastic anemia and thalassemia. However, its use has been limited by the increased treatment related complications, including acute kidney injury (AKI) with an incidence ranging from 20% to 73%. AKI after HSCT has been associated with an increased risk of mortality. The incidence of AKI reported in recipients of myeloablative allogeneic transplant is considerably higher in comparison to other subclasses mainly due to use of cyclosporine and development of graft-versus-host disease (GVHD) in allogeneic groups...
2016: International Journal of Nephrology
https://www.readbyqxmd.com/read/27878421/the-role-of-the-atrial-electromechanical-delay-in-predicting-atrial-fibrillation-in-beta-thalassemia-major-patients
#7
Anna Rago, Vincenzo Russo, Andrea Antonio Papa, Carmine Ciardiello, Bruno Pannone, Maria Carolina Mayer, Giovanni Cimmino, Gerardo Nigro
BACKGROUND: Paroxysmal atrial tachyarrhythmias frequently occur in beta-thalassemia major (β-TM) patients. The aim of the current study was to evaluate the atrial electromechanical delay (AEMD) in a large β-TM population with normal cardiac function and its relationship to atrial fibrillation (AF) onset. METHODS: Eighty β-TM patients (44 men, 36 women), with a mean age of 36.2 ± 11.1 years, and 80 healthy subjects used as controls, matched for age and gender, were studied for the occurrence of AF during a 5-year follow-up, through 30-day external loop recorder (ELR) monitoring performed every 6 months...
November 22, 2016: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/27876354/update-in-the-genetics-of-thalassemia-what-clinicians-need-to-know
#8
REVIEW
Xuan Shang, Xiangmin Xu
Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops fetalis and thalassemia major. However, accurate prenatal diagnosis depends on the comprehensive consideration of the molecular basis of thalassemias. To make a correct decision, the obstetrician should have a certain understanding of the genetics of thalassemias. Here we present a brief introduction of some fundamental genetic knowledge of thalassemias, including the production of hemoglobin, structure and location of globin genes, hemoglobin switch, epidemiology, clinical classification, molecular and cellular pathology, genotype-phenotype correlation, and genetic modifiers...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27872738/the-icet-a-recommendations-for-the-diagnosis-and-management-of-disturbances-of-glucose-homeostasis-in-thalassemia-major-patients
#9
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Saif Al Yaarubi, Nicos Skordis, Doaa Khater, Mohamed El Kholy, Iva Stoeva, Bernadette Fiscina, Michael Angastiniotis, Shahina Daar, Christos Kattamis
Iron overload in patients with thalassemia major (TM) affects glucose regulation and is mediated by several mechanisms. The pathogenesis of glycaemic abnormalities in TM is complex and multifactorial. It has been predominantly attributed to a combination of reduced insulin secretory capacity and insulin resistance. The exact mechanisms responsible for progression from norm glycaemia to overt diabetes in these patients are still poorly understood but are attributed mainly to insulin deficiency resulting from the toxic effects of iron deposited in the pancreas and insulin resistance...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27872728/what-unrelated-hematopoietic-stem-cell-transplantation-in-thalassemia-taught-us-about-transplant-immunogenetics
#10
REVIEW
Giorgio La Nasa, Adriana Vacca, Roberto Littera, Eugenia Piras, Sandro Orru, Marianna Greco, Carlo Carcassi, Giovanni Caocci
Although the past few decades have shown an improvement in the survival and complication-free survival rates in patients with beta-thalassemia major and gene therapy is already at an advanced stage of experimentation, hematopoietic stem cell transplantation (HSCT) continues to be the only effective and realistic approach to the cure of this chronic non-malignant disease. Historically, human leukocyte antigen (HLA)-matched siblings have been the preferred source of donor cells owing to superior outcomes compared with HSCT from other sources...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27867897/current-practice-in-treating-adult-female-thalassemia-major-patients-with-hypogonadism-an-international-network-of-clinicians-for-endocrinopathies-in-thalassemia-and-adolescence-medicine-survey-from-italy
#11
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Salvatore Di Maio
No abstract text is available yet for this article.
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27863763/guidelines-on-beta-thalassemia-major-regular-blood-transfusion-therapy-associa%C3%A3-%C3%A3-o-brasileira-de-hematologia-hemoterapia-e-terapia-celular-project-guidelines-associa%C3%A3-%C3%A3-o-m%C3%A3-dica-brasileira-2016
#12
Dante Langhi, Eugênia Maria Amorim Ubiali, José Francisco Comenalli Marques, Mônica de Almeida Verissimo, Sandra Regina Loggetto, Antonio Silvinato, Wanderley Marques Bernardo
No abstract text is available yet for this article.
October 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27862048/favorable-outcomes-after-in-utero-transfusion-in-fetuses-with-alpha-thalassemia-major-a-case-series-and-review-of-the-literature
#13
Emily M Kreger, Sylvia T Singer, Russell G Witt, Nancy Sweeters, Billie Lianoglou, Ashutosh Lal, Tippi C Mackenzie, Elliott Vichinsky
OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUT) are increasingly used to allow fetal survival in ATM, pre- and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation and transfusion independence...
November 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27857026/the-association-between-health-promoting-lifestyle-and-quality-of-life-among-adults-with-beta-thalassemia-major
#14
Aghbabak Maheri, Roya Sedeghi, Davoud Shojaeezadeh, Azar Tol, Mehdi Yaseri, Mojtaba Ebrahimi
Objectives: Health promoting lifestyle (HPL) is one of the factors affecting the quality of life (QoL) among patients with beta-thalassemia (β-thalassemia). Due to the lack of studies in this field, this study aimed at determining" the association between HPL and QoL among adults with β-thalassemia ". Methods: This cross-sectional (descriptive-analytic )study conducted among 389 adult patients with β-thalassemia in Tehran, Iran. The research instrument included a questionnaire consisting of three parts; demographic items, Short-Form Health Survey (SF-12) and Health Promoting Lifestyle Profile (HPLP-II)...
November 15, 2016: Epidemiology and Health
https://www.readbyqxmd.com/read/27853501/evaluation-of-iron-deposition-in-the-adrenal-glands-of-%C3%AE-thalassemia-major-patients-using-3-tesla-mri
#15
Tevfik Guzelbey, Bengi Gurses, Erman Ozturk, Olcay Ozveren, Aysegul Sarsilmaz, Ebru Karasu
BACKGROUND: Beta-thalassemia major (β-TM) patients need blood transfusions, which result in iron deposition. To regulate chelation therapy, iron load has to be measured. With MRI, the amount of signal loss and T2* decay time shortening are used for iron quantification. OBJECTIVES: The aim was to measure adrenal iron load with T2* relaxometry using MRI, and to compare it with liver and cardiac iron and serum ferritin, and to find out whether adrenal iron could be predicted from those parameters...
July 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27848181/characterization-of-circulating-cd4-cd8-double-positive-and-cd4-cd8-double-negative-t-lymphocyte-in-children-with-%C3%AE-thalassemia-major
#16
Asmaa M Zahran, Khaled Saad, Khalid I Elsayh, Mohamd A Alblihed
: Infectious complications represent the second most common cause of mortality and a major cause of morbidity in β-thalassemia major (BTM), with a prevalence of 12-13%. The data on unconventional T-lymphocyte subsets in BTM children are limited. The aim of the present study was to investigate and evaluate phenotypic alterations in CD4(+)CD8(+) double positive (DP), CD4(-) CD8(-) double negative (DN), and natural killer T-lymphocytes (NKT) in BTM children in comparison to healthy controls...
November 15, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27846660/diabetes-in-patients-with-%C3%A3-thalassemia-or-other-hemoglobinopathies-analysis-from-the-dpv-database
#17
K Warncke, K Konrad, E Kohne, E Hammer, U Ohlenschläger, S Herrlinger, A Jäger, R W Holl
Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry aged<30 years with thalassemia major or other hemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27843752/thalassemia-major-how-do-we-improve-quality-of-life
#18
Nonita Dhirar, Jyoti Khandekar, Damodar Bachani, Deonath Mahto
BACKGROUND: Thalassemia Major is a preventable genetic disorder characterized by abnormal hemoglobin synthesis and lifelong blood transfusions. The children suffering from Thalassemia Major have poor quality of life. This study was conducted to assess the factors influencing quality of life of these children and how it can be improved. METHODS: A descriptive cross sectional study was conducted in 2014 at Thalassemia Day Care Centre of a tertiary level children's hospital in Delhi, to assess quality of life of children suffering from Thalassemia Major...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27834467/relation-of-anthropometric-measurements-to-ocular-biometric-changes-and-refractive-error-in-children-with-thalassemia
#19
Rania S Elkitkat, Amany A El-Shazly, Weam M Ebeid, Marwa R Deghedy
PURPOSE: To evaluate and correlate anthropometric, biometric, and refractive error changes in thalassemia major (TM). METHODS: One hundred children with TM and another hundred healthy controls were recruited. Height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were the anthropometric parameters recorded. Full ophthalmologic examination was performed, including best-corrected visual acuity, cycloplegic refraction, slit-lamp examination, Goldmann applanation tonometry, indirect ophthalmoscopy, keratometry (K readings), and ocular biometry...
November 5, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/27829333/immune-status-in-children-with-beta-thalassemia-in-correlation-with-iron-overload-single-center-egyptian-study
#20
Adel Abd Elhaleim Hagag, Mohamed A Elgamsy, Hassan M El-Asy, Rasha M Gamal, Walid N Elshahaby, Enaam S Abd Elbar
BACKGROUND: 'Beta thalassemia is inherited hemoglobin disorder resulting in chronic hemolytic anemia that requires lifelong transfusion therapy'. 'Repeated blood transfusions and RBCs hemolysis are the main causes of iron overload', which in addition to immune abnormalities, are common predisposing factors to infection in patients with thalassemia. Aim of this work was to study immune status including T lymphocyte subsets and serum immunoglobulin levels 'in children with beta- thalassemia in correlation with iron overload'...
November 7, 2016: Endocrine, Metabolic & Immune Disorders Drug Targets
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