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Thalassemia

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https://www.readbyqxmd.com/read/27924466/quality-of-life-in-children-with-thalassemia-and-their-caregivers-in-india
#1
Sapna Sharma, Bageshree Seth, Prashant Jawade, Madhavi Ingale, Maninder Singh Setia
OBJECTIVES: To assess and compare the Quality of Life (QOL) of children with beta-thalassemia major on regular transfusion therapy with normal children, and of the caregivers of children with beta-thalassemia major to that of caregivers of normal children. METHODS: A cross-sectional comparison of QOL in 75 thalassemic and 80 non-thalassemic children was conducted using the PedsQL™ 4.0 generic core scale. Also self-rated health was assessed in their caregivers using Short Form-36 Health Survey...
December 7, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27923273/decision-points-in-the-treatment-of-transfusional-iron-overload-in-patients-with-myelodysplastic-syndromes-why-when-and-how-to-chelate
#2
Farhan Imran, Pradyumna Phatak
Patients with myelodysplastic syndromes (MDS) differ from those with other transfusion-dependent conditions (eg, thalassemia) as they are typically older, have comorbid conditions, and a generally shorter life expectancy. The underlying disease process in MDS and frequent use of red blood cell transfusions lead to iron accumulation and ultimately organ damage. Whether iron-reducing interventions such as chelation therapy can improve outcomes in this population is currently under investigation. Areas Covered: We reviewed published English-language articles from PubMed on the topic of iron overload (IO) in MDS, and the use of iron chelation therapies (ICTs) to alleviate iron burden...
December 7, 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27917629/identification-of-hla-class-i-misreads-dropouts-using-serological-typing-in-comparison-with-dna-based-typing
#3
Hamid Nawaz Tipu, Muhammad Mukarram Bashir, Muhammad Noman
Serology and DNA techniques are employed for Human Leukocyte Antigen (HLA) typing in different transplant centers. Results may not always correlate well and may need retyping with different technique. All the patients (with aplastic anemia, thalassemia, and immunodeficiency) and their donors, requiring HLA typing for bone marrow transplant were enrolled in the study. Serological HLA typing was done by complement-dependent lymphocytotoxicity while DNA-based typing was done with sequence specific primers (SSP)...
October 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27911488/hepatocellular-carcinoma-as-an-emerging-morbidity-in-the-thalassemia-syndromes-a-comprehensive-review
#4
REVIEW
Hassan M Moukhadder, Racha Halawi, Maria Domenica Cappellini, Ali T Taher
The incidence of hepatocellular carcinoma (HCC) in patients with thalassemia is on the rise. The 2 well recognized HCC risk factors in thalassemia are iron overload and chronic viral infection with hepatitis C. The carcinogenicity of iron is related to its induction of oxidative damage, which results in genotoxicity, and to immunologic dysregulation, which attenuates cancer immune surveillance. Chronic hepatitis B and C infections lead to necroinflammation, which can prompt progression to HCC, but an independent role of hepatitis B virus in hepatic carcinogenesis among patients with thalassemia has not been demonstrated...
December 1, 2016: Cancer
https://www.readbyqxmd.com/read/27909215/cure-for-thalassemia-major-from-allogeneic-hematopoietic-stem-cell-transplantation-to-gene-therapy
#5
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
#6
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
#7
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
#8
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
#9
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/27890361/iron-dysregulation-in-beta-thalassemia
#10
REVIEW
Kamonlak Leecharoenkiat, Pathrapol Lithanatudom, Wannapa Sornjai, Duncan R Smith
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis. Ferroportin is the sole cellular iron export protein, and its expression is regulated transcriptionally, post-transcriptionally and post-translationally. Hepcidin, a hormone produced by liver cells, post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes...
November 2016: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#11
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#12
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27885340/acute-kidney-injury-in-hematopoietic-stem-cell-transplantation-a-review
#13
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/27883199/hepcidin-detects-iron-deficiency-in-sri-lankan-adolescents-with-a-high-burden-of-hemoglobinopathy-a-diagnostic-test-accuracy-study
#14
Katherine Wray, Angela Allen, Emma Evans, Chris Fisher, Anuja Premawardhena, Lakshman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Craig Webster, Andrew E Armitage, Andrew M Prentice, David J Weatherall, Hal Drakesmith, Sant-Rayn Pasricha
Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional study of 7526 secondary schoolchildren across Sri Lanka and analyzed associations between hepcidin and participant characteristics, iron indices, inflammatory markers and hemoglobinopathy states...
November 24, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27882072/radix-astragali-stimulates-p38-mark-phosphorylation-in-pediatric-patients-with-%C3%AE-thalassemia
#15
Zhuoming Lu, Xinhua Qian, Chunhong Zhang, Zhiwen Chen, Guangliang Du
A previous study conducted by our group demonstrated that Radix Astragali compounded with Codonopsis pilosula and Plastrum testudinis was effective in treating pediatric β-thalassemia in a randomized, controlled clinical trial. However, the mechanism of action that underpins this treatment remains to be elucidated. Blood was collected from patients participating in this clinical trial and nucleated red blood cell-enriched mononuclear cells were isolated to facilitate the extraction of RNA and protein. RT-PCR was used to monitor the expression of globin genes and p38 MAPK, and total and phosphorylated p38 MAPK expression was assessed using Western blot analysis...
2016: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/27878421/the-role-of-the-atrial-electromechanical-delay-in-predicting-atrial-fibrillation-in-beta-thalassemia-major-patients
#16
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
#17
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
#18
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/27872733/hyperhemolytic-syndrome-complicating-a-delayed-hemolytic-transfusion-reaction-due-to-anti-p1-alloimmunization-in-a-pregnant-woman-with-hbo-arab-%C3%AE-thalassemia
#19
Zoe Bezirgiannidou, Anna Christoforidou, Eftychia Kontekaki, Athanasios G Anastasiadis, Spyros I Papamichos, Helen Menexidou, Dimitrios Margaritis, Georges Martinis, Elpis Mantadakis
BACKGROUND: Hyperhemolytic Syndrome or Hyperhemolytic Transfusion Reaction (HHTR), a life-threatening subset of Delayed Hemolytic Transfusion Reaction (DHTR) is characterized by destruction of both transfused and autologous erythrocytes evidenced by a fall in post transfusion hemoglobin below the pre-transfusion level. CASE REPORT: We describe a case of DHTR due to anti-P1 alloimmunization manifesting with hyperhemolysis in a 30-year-old Greek Pomak woman with thalassemia intermedia (HbO-Arab/β-thalassemia), during the11(th) week of her first gestation...
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
#20
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
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