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Alpha thalassemia

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https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#1
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#2
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#3
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/27981643/ugt1a1-ta-n-genotype-is-not-the-major-risk-factor-of-cholelithiasis-in-sickle-cell-disease-children
#4
Philippe Joly, Céline Renoux, Philippe Lacan, Yves Bertrand, Giovanna Cannas, Nathalie Garnier, Daniella Cuzzubbo, Kamila Kebaïli, Cécile Renard, Alexandra Gauthier, Vincent Pialoux, Cyril Martin, Marc Romana, Philippe Connes
OBJECTIVES: Because of the increased hemolytic rate, a significant proportion of patients with sickle cell disease (SCD) are prone to develop cholelithiasis. The present study investigated the role of several genetic factors (UGT1A1 promoter (TA)n repeat polymorphism, alpha-globin status), hematological parameters, clinical severity, and hydroxyurea (HU) therapy on the occurrence of cholelithiasis in SCD. METHODS: One hundred and fifty-eight children (2-18 yr old) regularly followed at the University Hospital of Lyon (France) were included...
December 16, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27870471/analytical-evaluation-of-the-adams-%C3%A2-a1c-ha-8180-thalassemia-mode-high-pressure-liquid-chromatography-analyser-for-the-measurement-of-hba2-and-hbf
#5
E Urrechaga
BACKGROUND: ADAMS(™) A1cHA-8180T is a HPLC system; within 3.5 min, it quantifies HbF, HbA2 , and HbA0 and flags abnormal peaks. We evaluate its analytical performance for routine estimation of HbA2 and HbF, and critical tests were performed for identifying β-thalassemia carriers. METHODS: Trueness imprecision, carry over, linearity, and effect of anemia were evaluated according to ICLH, ICLS, or manufacture's guidelines. Comparison (ADAMS(™) A1c HA-8160T) was performed by running 400 samples from healthy subjects, 30 alpha and 80 beta carriers (range: 1...
December 2016: International Journal of Laboratory Hematology
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
#6
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 (IUTs) are increasingly used to allow fetal survival in ATM, prenatal 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...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27658436/apol1-%C3%AE-thalassemia-and-bcl11a-variants-as-a-genetic-risk-profile-for-progression-of-chronic-kidney-disease-in-sickle-cell-anemia
#7
LETTER
Santosh L Saraf, Binal N Shah, Xu Zhang, Jin Han, Bamidele O Tayo, Taimur Abbasi, Adam Ostrower, Elizabeth Guzman, Robert E Molokie, Michel Gowhari, Johara Hassan, Shivi Jain, Richard S Cooper, Roberto F Machado, James P Lash, Victor R Gordeuk
No abstract text is available yet for this article.
January 2017: Haematologica
https://www.readbyqxmd.com/read/27604789/in-vivo-molecular-profiling-of-human-glioma-using-diffusion-kurtosis-imaging
#8
Johann-Martin Hempel, Sotirios Bisdas, Jens Schittenhelm, Cornelia Brendle, Benjamin Bender, Henk Wassmann, Marco Skardelly, Ghazaleh Tabatabai, Salvador Castaneda Vega, Ulrike Ernemann, Uwe Klose
The purpose of this study is to assess the diagnostic performance of diffusion kurtosis imaging (DKI) for in vivo molecular profiling of human glioma. Normalized mean kurtosis (MKn) and mean diffusivity (MDn) metrics from DKI were assessed in 50 patients with histopathologically confirmed glioma. The results were compared in regard to the WHO-based histological findings and molecular characteristics leading to integrated diagnosis (Haarlem Consensus): isocitrate-dehydrogenase (IDH1/2) mutation status, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) expression, chromosome 1p/19q loss of heterozygosity (LOH), and O6-methylguanine DNA methyltransferase (MGMT) promoter methylation status...
September 7, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27594433/retinal-interneuron-survival-requires-non-cell-autonomous-atrx-activity
#9
Pamela S Lagali, Chantal F Medina, Brandon Y H Zhao, Keqin Yan, Adam N Baker, Stuart G Coupland, Catherine Tsilfidis, Valerie A Wallace, David J Picketts
ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harbouring a mutation occurring in ATR-X patients. The visual system abnormalities observed in these mice parallels the Atrx-null retinal phenotype characterized by interneuron defects and selective loss of amacrine and horizontal cells...
September 4, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27578458/switch-telomerase-to-alt-mechanism-by-inducing-telomeric-dna-damages-and-dysfunction-of-atrx-and-daxx
#10
Yang Hu, Guang Shi, Laichen Zhang, Feng Li, Yuanling Jiang, Shuai Jiang, Wenbin Ma, Yong Zhao, Zhou Songyang, Junjiu Huang
Activation of telomerase or alternative lengthening of telomeres (ALT) is necessary for tumours to escape from dysfunctional telomere-mediated senescence. Anti-telomerase drugs might be effective in suppressing tumour growth in approximately 85-90% of telomerase-positive cancer cells. However, there are still chances for these cells to bypass drug treatment after switching to the ALT mechanism to maintain their telomere integrity. But the mechanism underlying this switch is unknown. In this study, we used telomerase-positive cancer cells (HTC75) to discover the mechanism of the telomerase-ALT switch by inducing telomere-specific DNA damage, alpha-thalassemia X-linked syndrome protein (ATRX) knockdown and deletion of death associated protein (DAXX)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27572718/normal-hemostatic-parameters-in-children-and-young-adults-with-%C3%AE-thalassemia-diseases
#11
Nongnuch Sirachainan, Ampaiwan Chuansumrit, Praguywan Kadegasem, Werasak Sasanakul, Pakawan Wongwerawattanakoon, Lalita Mahaklan
Thalassemia intermedia (TI), a non-transfusion dependent thalassemia, is divided into α-thalassemia, such as HbH disease, and β-thalassemia diseases, such as HbE/β(+) thromboembolism (TE) in TI has been mostly reported in β-thalassemia diseases with incidence rates of 3.9-29%. The present study enrolled 60 patients with α-thalassemia intermedia. The control groups were thalassemia major (TM) consisting of 17 patients diagnosed with β-thalassemia diseases, 24 patients diagnosed with splenectomized β-thalassemia diseases and 25 normal subjects...
October 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27557546/risk-assessment-of-gene-variants-for-neonatal-hyperbilirubinemia-in-taiwan
#12
Yi-Hao Weng, Ya-Wen Chiu, Shao-Wen Cheng, Chun-Yuh Yang
BACKGROUND: Hyperbilirubinemia is a common disorder during neonatal period in Taiwan. Gene variants may play an important role in the development of neonatal hyperbilirubinemia. The current study investigated the association between neonatal hyperbilirubinemia and common gene variants involving the production and metabolism of bilirubin. METHODS: This prospective study enrolled 444 healthy infants born in the Chang Gung Memorial Hospital at Taipei from 2013-2015...
2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27521862/clinical-hematological-and-genetic-data-of-a-cohort-of-children-with-hemoglobin-sd
#13
Paulo do Val Rezende, Kenia da Silva Costa, Jose Carlos Domingues Junior, Paula Barezani Silveira, André Rolim Belisário, Celia Maria Silva, Marcos Borato Viana
INTRODUCTION: The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort of newborns with hemoglobin SD. METHODS: Isoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping...
July 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27511747/analysis-of-protein-profiling-studies-of-%C3%AE-thalassemia-hb-e-disease
#14
REVIEW
Pathrapol Lithanatudom, Duncan R Smith
A number of studies have used global protein profiling technologies on a range of patient samples to detect proteins that are differentially expressed in β-thalassemia/Hb E as an aid for understanding the physiopathology of this disease. Seven studies have identified a total of 111 unique, differentially expressed proteins. Seven proteins (prothrombin, alpha-1-antichymotrypsin, fibrinogen beta chain, hemoglobin beta, selenium-binding protein, microtubule-actin cross-linking factor and adenomatous polyposis coli protein 2) have been identified in two independent studies, whereas two proteins (carbonic anhydrase 1 and peroxiredoxin-2) have been identified in three independent studies...
November 2016: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/27499774/can-trimodal-distribution-of-hbs-levels-in-sickle-cell-traits-be-used-to-predict-the-associated-alpha-thalassemia-for-screening-cases-in-central-india
#15
B M Warpe, A V Shrikhande, S V Poflee
BACKGROUND: Until now, trimodal distribution of HbS has been seen by six different studies in the world when associated with alpha-thalassemia with confirmation by corresponding alpha-genotyping studies. The RBC indices reduce as alpha-globin genes reduce in sickle cell trait (SCT) patients, which decreases the extent of intra-vascular sickling and thus betters the clinical course of the patients. This is a pioneer study conducted on Central Indian poor population to use the already proven six studies to screen associated alpha-thalassemia in SCT patients thus, circumventing the much costlier alpha-genotyping studies...
2016: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/27478330/immunohistochemical-analysis-of-atrx-idh1-and-p53-in-glioblastoma-and-their-correlations-with-patient-survival
#16
Ajay Chaurasia, Sung-Hye Park, Jeong-Wook Seo, Chul-Kee Park
Glioblastoma (GBM) can be classified into molecular subgroups, on the basis of biomarker expression. Here, we classified our cohort of 163 adult GBMs into molecular subgroups according to the expression of proteins encoded by genes of alpha thalassemia/mental retardation syndrome X-linked (ATRX), isocitrate dehydrogenase (IDH) and TP53. We focused on the survival rate of molecular subgroups, depending on each and various combination of these biomarkers. ATRX, IDH1 and p53 protein expression were evaluated immunohistochemically and Kaplan-Meier analysis were carried out in each group...
August 2016: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27416954/morphological-and-molecular-features-of-astroblastoma-including-brafv600e-mutations-suggest-an-ontological-relationship-to-other-cortical-based-gliomas-of-children-and-young-adults
#17
Norman L Lehman, Eyas M Hattab, Bret C Mobley, Aisulu Usubalieva, Matthew J Schniederjan, Roger E McLendon, Werner Paulus, Elisabeth J Rushing, Maria-Magdalena Georgescu, Marta Couce, Mohanpal S Dulai, Mark L Cohen, Christopher R Pierson, Jack M Raisanen, Sarah E Martin, Trang D Lehman, Eric S Lipp, Jose M Bonnin, Mousa A Al-Abbadi, Kara Kenworthy, Kevin Zhao, Nehad Mohamed, Guojuan Zhang, Weiqiang Zhao
BACKGROUND: Astroblastomas (ABs) are rare glial tumors showing overlapping features with astrocytomas, ependymomas, and sometimes other glial neoplasms, and may be challenging to diagnose. METHODS: We examined clinical, histopathological, and molecular features in 28 archival formalin-fixed, paraffin-embedded AB cases and performed survival analyses using Cox proportional hazards and Kaplan-Meier methods. RESULTS: Unlike ependymomas and angiocentric gliomas, ABs demonstrate abundant distinctive astroblastic pseudorosettes and are usually Olig2 immunopositive...
January 2017: Neuro-oncology
https://www.readbyqxmd.com/read/27408412/new-codanin-1-gene-mutations-in-a-italian-patient-with-congenital-dyserythropoietic-anemia-type-i-and-heterozygous-beta-thalassemia
#18
Elena D'Alcamo, V Agrigento, L Pitrolo, S Sclafani, R Barone, G Calvaruso, V Buffa, A Maggio
Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1...
June 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27363996/bone-microarchitecture-deteriorations-and-a%C3%A2-fragility-fracture-in-a%C3%A2-patient-with-beta-and-alpha-heterozygous-thalassemia-a%C3%A2-case-report
#19
Xaver Feichtinger, Roland Kocijan, Heinrich Resch, Christian Muschitz
To date there are few studies that have investigated bone mineral density (BMD) and markers of bone metabolism in patients with thalassemia minor form. None of the previous trials presented bone structure analysis in the patient populations. We present the case of a 24-year-old Turkish woman with heterozygous beta and alpha thalassemia who sustained a low-trauma fracture of the inferior pubic ramus. Despite normal markers of bone metabolism, the dual X‑ray absorptiometry (DXA) showed decreased areal bone mineral density...
June 30, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27339814/molecular-analysis-of-complex-cases-of-alpha-and-beta-thalassemia-in-mexican-mestizo-patients-with-microcytosis-and-hypochromia-reveals-two-novel-alpha-0-thalassemia-deletions-mex1-and-mex2
#20
E I de-la-Cruz-Salcedo, B Ibarra, L C Rizo-de-la-Torre, J Y Sánchez-López, A González-Mercado, C L Harteveld, F J Perea-Díaz
INTRODUCTION: Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (β-thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the molecular identification of α- and β-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . METHODS: Common deletional alleles (-α(3...
October 2016: International Journal of Laboratory Hematology
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