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Alpha thalassemia

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https://www.readbyqxmd.com/read/29755902/efficacy-and-safety-of-wheat-grass-in-thalassemic-children-on-regular-blood-transfusion
#1
Amit S Mutha, Kalpana U Shah, Aarti A Kinikar, Balasaheb B Ghongane
BACKGROUND: In thalassemia, mutations either in alpha or beta chain synthesis results in low hemoglobin (Hb). Wheatgrass has been used for many years for health purposes. Some reports suggest the beneficial effect of wheatgrass on transfusion requirements. Folic acid is also known to play an important role in several biochemical reactions. In some patients with thalassemia, the supplementation of folic acid is useful. OBJECTIVE: To evaluate the efficacy and safety of wheatgrass in children with thalassemia receiving chronic blood transfusions...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29749692/hb-adana-hba2-or-hba1-c-179g-a-and-alpha-thalassemia-genotype-phenotype-correlation
#2
Sharon A Singh, Susmita Sarangi, Abena Appiah-Kubi, Peihong Hsu, W Byron Smith, Patrick G Gallagher, Bertil Glader, David H K Chui
Alpha thalassemia due to nondeletional mutations usually leads to more severe disease than that caused by deletional mutations. Devastating outcomes such as hydrops fetalis can occur with two nondeletional mutations, therefore warranting DNA-based workup for suspected carriers with subtle hematological abnormalities for family counseling purposes. We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, compounded with an alpha globin gene deletion resulting in thalassemia intermedia...
May 11, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29740685/efficacy-of-decitabine-as-hemoglobin-f-inducer-in-hbe-%C3%AE-thalassemia
#3
Siddhesh Arun Kalantri, Rudra Ray, Arnab Chattopadhyay, Sunistha Bhattacharjee, Ankita Biswas, Maitreyee Bhattacharyya
To study safety, efficacy (hemoglobin and hemoglobin F percentage increment in non-transfusion-dependent patients and decrease in transfusion frequency in transfusion-dependent patients), and determinants of response of decitabine in patients with HbE/β-thalassemia. Thirty patients of HbE/β-thalassemia (age > 18 years) were enrolled. Both transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) patients were included after obtaining informed consent. Participants received 0.2 mg/kg of 5-aza-2'-deoxycytidine (decitabine) subcutaneously on 2 consecutive days a week for at least 12 weeks...
May 9, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29737797/thalassemia-and-other-hemoglobinopathies-among-anemic-individuals-in-metro-manila-philippines-and-their-intake-of-iron-supplements
#4
Mario V Capanzana, Ma Angelina L Mirasol, Geoffry Smith, Imelda Angeles-Agdeppa, Leah Perlas, Francisco de Los Reyes, Maria Sofia Amarra
BACKGROUND AND OBJECTIVES: Iron deficiency is the most common cause of anemia worldwide. In Southeast Asia, studies showed that genetic hemoglobin disorders also contribute significantly to the burden of anemia. The study aimed to estimate the proportion of thalassemia and other hemoglobinopathies versus iron deficiency and other causes in a sample of anemic individuals; describe the characteristics of thalassemic subjects in terms of severity of anemia, adequacy of iron stores, and hematological profile; examine the intake of iron supplements among individuals with varying causes of anemia...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29730791/distinct-demographic-profile-and-molecular-markers-of-primary-cns-tumor-in-1873-adolescent-and-young-adult-patient-population
#5
Rohit Vadgaonkar, Sridhar Epari, Girish Chinnaswamy, Rahul Krishnatry, Raees Tonse, Tejpal Gupta, Rakesh Jalali
INTRODUCTION: We present detailed demographic profile, tumor types, and their molecular markers in adolescent and young adult (AYA) patients of age group between 15 and 39 years with primary central nervous system (PCNS) tumors, and compare with pediatric and adult patient populations. METHODOLOGY: Demographic- and disease-related information of 1873 PCNS tumor patients of age 15-39 years registered between 1 January 2011 and 31 December 2015 at our institution was analyzed with respect to their demographics and tumor subtypes...
May 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29706636/does-atrx-germline-variation-predispose-to-osteosarcoma-three-additional-cases-of-osteosarcoma-in-two-atr-x-syndrome-patients
#6
Julien Masliah-Planchon, Dominique Lévy, Delphine Héron, Fabienne Giuliano, Catherine Badens, Paul Fréneaux, Louise Galmiche, Jean-Marc Guinebretierre, Cécile Cellier, Joshua J Waterfall, Khadija Aït-Raïs, Gaëlle Pierron, Christophe Glorion, Isabelle Desguerre, Christine Soler, Anne Deville, Olivier Delattre, Jean Michon, Franck Bourdeaut
Osteosarcoma is the most common malignant bone tumor in adolescents and young adults. Most osteosarcomas are sporadic but the risk of osteosarcoma is also increased by germline variants in TP53, RB1 and RECQL4 genes. ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. Here we report two children with ATR-X syndrome who developed osteosarcoma...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29683194/clinical-experience-with-multigene-carrier-panels-in-the-reproductive-setting
#7
Catherine Terhaar, Nicole Teed, Rachel Allen, Lindsay Dohany, Christina Settler, Carol Holland, Ryan E Longman
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases)...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29669917/ribosomal-dna-copy-loss-and-repeat-instability-in-atrx-mutated-cancers
#8
Maheshi Udugama, Elaine Sanij, Hsiao P J Voon, Jinbae Son, Linda Hii, Jeremy D Henson, F Lyn Chan, Fiona T M Chang, Yumei Liu, Richard B Pearson, Paul Kalitsis, Jeffrey R Mann, Philippe Collas, Ross D Hannan, Lee H Wong
ATRX (alpha thalassemia/mental retardation X-linked) complexes with DAXX to deposit histone variant H3.3 into repetitive heterochromatin. Recent genome sequencing studies in cancers have revealed mutations in ATRX and their association with ALT (alternative lengthening of telomeres) activation. Here we report depletion of ATRX in mouse ES cells leads to selective loss in ribosomal RNA gene (rDNA) copy number. Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower rDNA copy than ALT-negative tumors...
May 1, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29667086/contrast-enhancement-predicting-survival-in-integrated-molecular-subtypes-of-diffuse-glioma-an-observational-cohort-study
#9
Johann-Martin Hempel, Cornelia Brendle, Benjamin Bender, Georg Bier, Marco Skardelly, Irina Gepfner-Tuma, Franziska Eckert, Ulrike Ernemann, Jens Schittenhelm
INTRODUCTION: To assess the predictive value of magnetic resonance imaging (MRI) gadolinium enhancement as a prognostic factor in the 2016 World Health Organization Classification of Tumors of the Central Nervous System integrated glioma groups. METHODS: Four-hundred fifty patients with histopathologically confirmed glioma were retrospectively assessed between 07/1997 and 06/2014 using gadolinium enhancement, survival, and relevant prognostic molecular data [isocitrate dehydrogenase (IDH); alpha-thalassemia/mental retardation syndrome X-linked (ATRX); chromosome 1p/19q loss of heterozygosity; and O6-methylguanine DNA methyltransferase (MGMT)]...
April 17, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29627922/genetics-of-iranian-alpha-thalassemia-patients-a-comprehensive-original-study
#10
Bijan Keikhaei, Pejman Slehi-Fard, Gholamreza Shariati, Abbas Khosravi
Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing...
April 7, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29622873/clinico-hematological-profile-of-hb-q-india-an-uncommon-hemoglobin-variant
#11
Aradhana Harrison, Ranjeet Singh Mashon, Naveen Kakkar, Sheila Das
Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders...
April 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29621931/contrasting-co-inheritance-of-alpha-and-beta-mutations-in-delta-beta-thalassemia-and-hereditary-persistence-of-fetal-hemoglobin-a-study-from-india
#12
Hareram Pandey, Ravi Ranjan, Kanwaljeet Singh, Amit Sharma, Kamal Kishor, Tulika Seth, Renu Saxena
BACKGROUND AND OBJECTIVES: Coinheritance of δβ thalassemia and HPFH with inherited factors is sparsely documented and may affect treatment modalities. So, we screened the presence of α deletion and β mutations in δβ thalassemia and HPFH disorders in 52 cases with high Hb F concentration. MATERIAL AND METHODS: Fifty-two individuals with raised HbF levels were study subjects. CZE was done for quantitative assessment of hemoglobin variants. Asian Indian inversion deletion break point type A, B and HPFH-3 were done by GAP-PCR...
April 5, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29614629/genetic-modifiers-of-severity-in-sickle-cell-disease
#13
Alicia K Chang, Carly C Ginter Summarell, Parendi T Birdie, Vivien A Sheehan
Sickle cell disease (SCD) is one of the most common single disease disorders world-wide. It is remarkable for its clinical heterogeneity, even among individuals with identical genotypes. Some individuals experience morbidity and mortality in early childhood, while others have a relatively mild course, and normal or near normal life expectancy. Many clinical complications are associated with SCD; most notably frequent pain episodes, stroke, acute chest syndrome, avascular necrosis, nephropathy, retinopathy and pulmonary hypertension...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29590102/common-%C3%AE-globin-variants-modify-hematologic-and-other-clinical-phenotypes-in-sickle-cell-trait-and-disease
#14
Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancestral α-thalassemia mutation (-α3.7 deletion) and β-globin traits (HbS trait [SCT] and HbC trait) on important clinical phenotypes such as red blood cell parameters, anemia, and chronic kidney disease (CKD). In a community-based cohort of 2,916 African Americans from the Jackson Heart Study, we confirmed the expected associations between SCT, HbC trait, and the -α3...
March 28, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29576180/the-incidental-detection-of-alpha-thalassemia
#15
William S Ferguson
No abstract text is available yet for this article.
April 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29531652/an-observational-study-of-the-effect-of-hemoglobinopathy-alpha-thalassemia-and-hemoglobin-e-on-p-vivax-parasitemia
#16
Suparak Para, Punchalee Mungkalasut, Makamas Chanda, Issarang Nuchprayoon, Srivicha Krudsood, Chalisa Louicharoen Cheepsunthorn
Background: The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax . Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax in Southeast Asian malaria patients in Thailand. Methods: A total of 210 malaria patients, admitted to the Hospital for Tropical Diseases, Thailand during 2011-2012, consisting of 159 Myanmeses, 13 Karens, 26 Thais, 3 Mons, 3 Laotians, and 6 Cambodians were recruited...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29468261/in-vivo-molecular-profiling-of-human-glioma-cross-sectional-observational-study-using-dynamic-susceptibility-contrast-magnetic-resonance-perfusion-imaging
#17
Johann-Martin Hempel, Jens Schittenhelm, Uwe Klose, Benjamin Bender, Georg Bier, Marco Skardelly, Ghazaleh Tabatabai, Salvador Castaneda Vega, Ulrike Ernemann, Cornelia Brendle
PURPOSE: To assess the diagnostic performance of dynamic susceptibility contrast perfusion magnetic resonance perfusion imaging (DSC-MRI) for in vivo human glioma molecular profiling. METHODS: In this study 100 patients with histopathologically confirmed glioma who provided written informed consent were retrospectively assessed between January 2016 and February 2017 in two prospective trials that were approved by the local institutional review board. Cerebral blood volume (CBV) measurements from DSC-MRI were assessed, and histogram parameters of relative CBV (rCBV) results were compared among World Health Organization (WHO) 2016 based histological findings and molecular characteristics...
February 21, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29458727/ineffective-erythropoiesis-anemia-and-iron-overload
#18
REVIEW
Ritama Gupta, Khaled M Musallam, Ali T Taher, Stefano Rivella
Stress erythropoiesis (SE) is characterized by an imbalance in erythroid proliferation and differentiation under increased demands of erythrocyte generation and tissue oxygenation. β-thalassemia represents a chronic state of SE, called ineffective erythropoiesis (IE), exhibiting an expansion of erythroid-progenitor pool and deposition of alpha chains on erythrocyte membranes, causing cell death and anemia. Concurrently, there is a decrease in hepcidin expression and a subsequent state of iron overload. There are substantial investigative efforts to target increased iron absorption under IE...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29449005/association-between-oxidative-stress-genetic-factors-and-clinical-severity-in-children-with-sickle-cell-anemia
#19
Céline Renoux, Philippe Joly, Camille Faes, Pauline Mury, Buse Eglenen, Mine Turkay, Gokce Yavas, Ozlem Yalcin, Yves Bertrand, Nathalie Garnier, Daniela Cuzzubbo, Alexandra Gauthier, Marc Romana, Berenike Möckesch, Giovanna Cannas, Sophie Antoine-Jonville, Vincent Pialoux, Philippe Connes
OBJECTIVES: To investigate the associations between several sickle cell disease genetic modifiers (beta-globin haplotypes, alpha-thalassemia, and glucose-6-phosphate dehydrogenase deficiency) and the level of oxidative stress and to evaluate the association between oxidative stress and the rates of vaso-occlusive events. STUDY DESIGN: Steady-state oxidative and nitrosative stress markers, biological variables, genetic modulators, and vaso-occlusive crisis events requiring emergency admissions were measured during a 2-year period in 62 children with sickle cell anemia (58 SS and 4 Sβ0 )...
April 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29365317/quantitative-proteomics-of-plasma-vesicles-identify-novel-biomarkers-for-hemoglobin-e-%C3%AE-thalassemic-patients
#20
Janejira Kittivorapart, Vanja Karamatic Crew, Marieangela C Wilson, Kate J Heesom, Noppadol Siritanaratkul, Ashley M Toye
Hemoglobin E (HbE)/β-thalassemia has a wide spectrum of clinical manifestations that cannot be explained purely by its genetic background. Circulating extracellular vesicles (EVs) are one factor that likely contributes to disease severity. This study has explored the differences in protein composition and quantity between EVs from HbE/β-thalassemic patients and healthy individuals. We used tandem mass tag labeling mass spectrometry to analyze the EV proteins isolated from the plasma of 15 patients compared with the controls...
January 23, 2018: Blood Advances
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