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Thalassemia

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https://www.readbyqxmd.com/read/29236053/cut-off-values-of-hematologic-parameters-to-predict-the-number-of-alpha-genes-deleted-in-subjects-with-deletional-alpha-thalassemia
#1
Diego Velasco-Rodríguez, Carlos Blas, Juan-Manuel Alonso-Domínguez, Gala Vega, Carlos Soto, Aránzazu García-Raso, Pilar Llamas-Sillero
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α⁺ thalassemia, 36 homozygous α⁺ thalassemia, 29 heterozygous α⁰ thalassemia and 8 cases of Hb H disease)...
December 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29235740/thalassemia-major-and-intermedia-in-patients-older-than-35-years-a-single-center-experience
#2
Liat Shargian-Alon, Oren Pasvolsky, Pia Raanani
BACKGROUND: During the past decades, beta thalassemia major (TM) and beta thalassemia intermedia (TI) have transformed from a universally fatal disease at a young age into a chronic disease. This advancement is attributed to improved chelation therapy as well as enhanced management strategies, with focused attention on disease and treatment-related complications. OBJECTIVES: To describe characteristics of adults with thalassemia as well as treatment modalities, disease and treatment-related complications, and socioeconomic information of the patients...
December 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29235162/iron-chelating-effect-of-silymarin-in-patients-with-%C3%AE-thalassemia-major-a-crossover-randomised-control-trial
#3
Hadi Darvishi-Khezri, Ebrahim Salehifar, Mehrnoush Kosaryan, Hossein Karami, Mohammadreza Mahdavi, Abbas Alipour, Aily Aliasgharian
This study aimed to determine the potential iron-chelating effects of silymarin in patients with β-thalassemia major receiving standard iron-chelation therapy. We evaluated whether addition of silymarin to standard iron-chelation therapy could improve iron burden markers and liver and cardiac function in these patients, via a placebo-controlled, crossover clinical study. Silymarin (140 mg) or placebo were administered thrice daily to all patients (n = 82) for 12 weeks, and after a 2-week washout period, patients were crossed over to the other groups...
December 13, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/29234963/financial-burden-of-treatment-of-transfusion-dependent-thalassemia
#4
REVIEW
Deepak Bansal
No abstract text is available yet for this article.
December 13, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29234227/eradicating-primary-congenital-glaucoma-from-saudi-arabia-the-case-for-a-national-screening-program
#5
REVIEW
Rizwan Malik, Rajiv Khandekar, Trishal Boodhna, Zuhair Rahbeeni, Abdul Elah Al Towerki, Deepak P Edward, Khaled Abu-Amero
The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of medical care. The social and economic burden of the condition is substantial. Presently, the mainstay of management is early diagnosis and treatment of PCG. Premarital screening, especially in recessive diseases, such as PCG can be immensely useful by detecting the presence of a defect in the causative gene, followed by genetic counseling to potential couples that will lead to eradication of the disease in future generations...
October 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29234223/retinal-nerve-fiber-layer-thickness-in-children-with-%C3%AE-thalassemia-major
#6
Feyzahan Uzun, Emine Esra Karaca, Gönül Yıldız Yerlikaya, Hüseyin Fındık, Mehmet Akın
Purpose: To measure the retinal nerve fiber layer thickness (RNFLT) in children with β-thalassemia major and to compare with healthy controls. Methods: A total of 47 patients with β-thalassemia major and 51 healthy controls were included. Each subject underwent a standard ophthalmological examination. RNFLT measurements were performed using optical coherence tomography. Results: Mean age of the patient group and healthy controls were 13...
October 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29232169/dietary-nonheme-iron-is-equally-bioavailable-from-ferritin-or-ferrous-sulfate-in-thalassemia-intermedia
#7
Monica Khurana, Ellen B Fung, Elliott P Vichinsky, Elizabeth C Theil
Transfusion-independent patients with thalassemia intermedia (TI) develop fatal iron overload from excessive iron absorption triggered by ineffective erythropoiesis. More information about iron pharmacokinetics and nonheme, dietary iron absorption in such patients is needed to optimize management. To obtain more information, different forms of supplemental nonheme iron sources (ferritin and ferrous sulfate) were compared in 4 TI (hemoglobin <9 g/dL) and 6 control (hemoglobin 12-16 g/dL) patients. Serial serum iron concentrations were measured during the 24 hours following consumption of 1 mg/kg of elemental iron as ferritin or ferrous sulfate...
December 12, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29229306/pseudo-continuous-arterial-spin-labeling-quantification-in-anemic-subjects-with-hyperemic-cerebral-blood-flow
#8
Adam Bush, Yaqiong Chai, So Young Choi, Lena Vaclavu, Scott Holland, Aart Nederveen, Thomas Coates, John Wood
PURPOSE: To investigate possible sources of quantification errors in global cerebral blood flow (CBF) measurements by comparing pseudo continuous arterial spin labeling (PCASL) and phase contrast (PC) MRI in anemic, hyperemic subjects. METHODS: All studies were performed on a Philips 3T Achieva MRI scanner. PC and PCASL CBF examinations were performed in 10 healthy, young adult subjects and 18 young adults with chronic anemia syndromes including sickle cell disease and thalassemia...
December 8, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/29227829/a-long-noncoding-rna-from-the-hbs1l-myb-intergenic-region-on-chr6q23-regulates-human-fetal-hemoglobin-expression
#9
Tasha A Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J Farrell, Ryo Kurita, Yukio Nakamura, George J Murphy, Shuaiying Cui, Martin H Steinberg, David H K Chui
The HBS1L-MYB intergenic region (chr6q23) regulates erythroid cell proliferation, maturation, and fetal hemoglobin (HbF) expression. An enhancer element within this locus, highlighted by a 3-bp deletion polymorphism (rs66650371), is known to interact with the promoter of the neighboring gene, MYB, to increase its expression, thereby regulating HbF production. RNA polymerase II binding and a 50-bp transcript from this enhancer region reported in ENCODE datasets suggested the presence of a long noncoding RNA (lncRNA)...
November 29, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29227325/study-of-insulin-resistance-in-patients-with-%C3%AE-thalassemia-major-and-validity-of-triglyceride-glucose-tyg-index
#10
Arif M Ansari, Kamalakshi G Bhat, Smitha S Dsa, Soundarya Mahalingam, Nitin Joseph
Complications like impaired glucose tolerance and diabetes mellitus due to iron overload need early identification in thalassemia. We studied the proportion of insulin resistance in thalassemia major patients on chronic transfusion, identified insulin resistance using homeostasis model assessment of insulin resistance (HOMA-IR) and triglyceride glucose (TYG) index, compared them and validated TYG index. In total, 73 thalassemia patients on regular transfusion for 3 years with serum ferritin >1500 ng/mL were studied...
December 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29226737/pseudoxanthoma-elasticum-like-in-%C3%AE-thalassemia-major-a-matter-of-%C3%AE-klotho-and-parathyroid-hormone
#11
Alessandro Baldan, Andrea Giusti, Cristina Bosi, Cristina Malaventura, Gianluca Forni, Caterina Borgna-Pignatti
Pseudoxanthoma elasticum-like (PXL) condition is one of the complications faced by patients with β-thalassemia major (β-TM). Histopathological features include abnormal, mineralized and fragmented elastic fibers in skin, eyes and arterial blood vessels (elastorrhexia). The pathogenesis of PXL lesions in β-TM is not yet completely understood. This study was aimed at analyzing a possible implication of α-Klotho in the clinical manifestation of PXL in patients with β-TM (30 with and 78 without PXL). A significant correlation was observed between Klotho, parathyroid hormone (PTH) and serum calcium (Ca)...
December 11, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29226507/age-is-the-only-predictor-of-small-decrease-in-lung-function-in-children-with-sickle-cell-anemia
#12
Shaina M Willen, Robyn Cohen, Mark Rodeghier, Fenella Kirkham, Susan S Redline, Carol Rosen, Jane Kirkby, Michael R DeBaun
The longitudinal pattern of lung function in children with sickle cell anemia (SCA) has shown a decrease in FEV1 % predicted, a risk factor for death in adults with SCA, but predictors for this decline are poorly characterized. In a prospective longitudinal multi-center cohort of children with SCA, we tested the hypotheses that: 1) FEV1 % predicted declines over time; and 2) SCA-specific characteristics and therapy predict this decline. At three clinical centers, children with SCA (HbSS or HbSβ0 thalassemia), unselected for respiratory disease, were enrolled in the Sleep and Asthma Cohort (SAC) study...
December 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29222267/new-therapeutic-targets-in-transfusion-dependent-and-independent-thalassemia
#13
REVIEW
M Domenica Cappellini, Irene Motta
β-Thalassemias are characterized by reduced production of β-globin chain, resulting in α/β-chain unbalance and precipitation of α-globin-heme complexes and determining ineffective erythropoiesis. Ineffective erythropoiesis, chronic hemolytic anemia, and compensatory hematopoietic expansion are the disease hallmarks, and they are related to the severity of the chain unbalance. Several clinical forms of β-thalassemia, including the coinheritance of β-thalassemia with hemoglobin E resulting in hemoglobin E/β-thalassemia, have been described...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222266/impact-of-bone-disease-and-pain-in-thalassemia
#14
REVIEW
Antonio Piga
Conventional treatment of thalassemia, namely regular blood transfusion and iron chelation, improves perspectives and quality of life; however, successful treatment leads to more time in which long-term complications such as bone disease can develop. Thalassemia bone disease (TBD) is unique: all aspects, from bone anatomy and bone quality to mineral density, may be affected, with important morbidity including osteoporosis, fractures, spinal deformities, nerve compression, and pain. Clinical presentations include growth impairment, rickets-like features, back pain, spinal deformities, any sign of nerve compression, severe osteoporosis, and fragility fractures...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222265/iron-overload-in-thalassemia-different-organs-at-different-rates
#15
REVIEW
Ali T Taher, Antoine N Saliba
Thalassemic disorders lie on a phenotypic spectrum of clinical severity that depends on the severity of the globin gene mutation and coinheritance of other genetic determinants. Iron overload is associated with increased morbidity in both patients with transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). The predominant mechanisms driving the process of iron loading include increased iron burden secondary to transfusion therapy in TDT and enhanced intestinal absorption secondary to ineffective erythropoiesis and hepcidin suppression in NTDT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29219637/first-cases-of-hb-agrinio-described-in-patients-from-the-republic-of-macedonia
#16
Marija Dimishkovska, Maja Kuzmanovska, Svetlana Kocheva, Kata Martinova, Oliver Karanfilski, Zlate Stojanoski, Dijana Plaseska-Karanfilska
Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: -α3.7 (rightward), -(α)20.5 and - -MED I deletions and Hb Icaria [α142, Term→Lys (α2), HBA2: c.427T>A] and polyadenylation signal (polyA) [AATAAA>AATGAA (α2), HBA2: c.*92A>G] point mutations. Here, we report two unrelated patients from the Romani population in the Republic of Macedonia, homozygotes for the α2-globin gene variant Hb Agrinio [α29(B10)Leu→Pro; HBA2: c...
December 8, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29219172/roles-of-lipocalin-2-and-adiponectin-in-iron-overload-cardiomyopathy
#17
REVIEW
Natthaphat Siri-Angkul, Siriporn C Chattipakorn, Nipon Chattipakorn
Thalassemia is among the most common genetic diseases worldwide. Ineffective erythropoiesis, chronic hemolysis, and regular blood transfusion in thalassemia patients lead to increased iron burden. Iron overload cardiomyopathy is the most severe co-morbidity and most common cause of mortality in thalassemia patients. Although its associated mechanisms are still not completely understood, cellular iron mishandling, chronic inflammation, and oxidative stress appear to be the key processes involved. In order to acquire a more comprehensive insight of the impact of cardiac iron overload, these alterations need to be intensively investigated...
December 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29218432/the-2016-revision-of-the-who-classification-of-central-nervous-system-tumours-retrospective-application-to-a-cohort-of-diffuse-gliomas
#18
Te Whiti Rogers, Gurvinder Toor, Katharine Drummond, Craig Love, Kathryn Field, Rebecca Asher, Alpha Tsui, Michael Buckland, Michael Gonzales
The classification of central nervous system tumours has more recently been shaped by a focus on molecular pathology rather than histopathology. We re-classified 82 glial tumours according to the molecular-genetic criteria of the 2016 revision of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. Initial diagnoses and grading were based on the morphological criteria of the 2007 WHO scheme. Because of the impression of an oligodendroglial component on initial histological assessment, each tumour was tested for co-deletion of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH-1 and 2) genes...
December 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29216871/mental-health-literacy-among-pediatric-hospital-staff-in-the-united-arab-emirates
#19
Nabeel Al-Yateem, Rachel Rossiter, Walter Robb, Alaa Ahmad, Mahmoud Saleh Elhalik, Sumaya Albloshi, Shameran Slewa-Younan
BACKGROUND: In the United Arab Emirates (UAE) 35% of the population are aged 0-24 years. A significant proportion of these young people are living with chronic conditions (e.g., asthma, type 1 diabetes, cardiac conditions, and genetically-transmitted conditions such as thalassemia and cystic fibrosis). This group has increased vulnerability to developmental delays and mental health problems, and is increasingly coming to the attention of service providers in mainstream schools, primary healthcare centers, and pediatric hospitals...
December 8, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/29204234/carotid-doppler-ultrasonography-as-a-screening-tool-of-early-atherosclerotic-changes-in-children-and-young-adults-with-%C3%AE-thalassemia-major
#20
Seif El-Din Abaza, Amina Abdel-Salam, Ahmed A Baz, Amira A Mohamed
Purpose: β-thalassemia major (β-TM) patients had an increased incidence of cardiovascular complications secondary to iron overload. They showed early carotid atherosclerosis as showed by increased carotid intima media thickness (CIMT) that may occur early even when significant iron overload is absent. We aimed to test the diagnostic performance of CIMT measurement by Doppler ultrasonography as a structural indicator for premature atherosclerosis in β-TM patients. Methods: Case-control study included 42 β-TM patients (24 males and 18 females) aged from 3 to 30 years and 36 age- and sex-matched healthy controls...
December 2017: Journal of Ultrasound
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