keyword
MENU ▼
Read by QxMD icon Read
search

Alpha thalassemia

keyword
https://www.readbyqxmd.com/read/28901965/anaplastic-gliomas-in-adults-an-update
#1
Cristina Izquierdo, Bastien Joubert, François Ducray
PURPOSE OF REVIEW: The current review summarizes recent advances on the oncogenesis, classification and treatment of adult anaplastic gliomas. RECENT FINDINGS: According to the 2016 WHO classification, three main molecular subgroups of adult diffuse anaplastic gliomas can be distinguished based on the 1p/19q codeletion and isocitrate dehydrogenase (IDH) mutation status. In the future, this classification may be further refined based on the telomerase reverse transcriptase promoter and alpha thalassemia/mental retardation syndrome X-linked mutation status, gene expression, DNA methylation and genomic profiling...
September 8, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28900367/measurement-of-hba1c-and-hba2-by-capillarys-2-flex-piercing-hba1c-programme-for-simultaneous-management-of-diabetes-and-screening-for-thalassemia
#2
Peifeng Ke, Jiawei Liu, Yan Chao, Xiaobin Wu, Yujuan Xiong, Li Lin, Zemin Wan, Xinzhong Wu, Jianhua Xu, Junhua Zhuang, Xianzhang Huang
INTRODUCTION: Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia. MATERIALS AND METHODS: Samples from 498 normal controls and 175 thalassemia patients were analysed by Capillarys 2FP HbA1c programme (Sebia, France). For method comparison, HbA1c was quantified by Premier Hb9210 (Trinity Biotech, Ireland) in 98 thalassaemia patients samples...
October 1, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#3
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#4
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28887661/widening-the-spectrum-of-deletions-and-molecular-mechanisms-underlying-alpha-thalassemia
#5
José Ferrão, Marisa Silva, Lúcia Gonçalves, Susana Gomes, Pedro Loureiro, Andreia Coelho, Armandina Miranda, Filomena Seuanes, Ana Batalha Reis, Francisca Pina, Raquel Maia, Paula Kjöllerström, Estela Monteiro, João F Lacerda, João Lavinha, João Gonçalves, Paula Faustino
Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, multiplex ligation-dependent probe amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the sub-telomeric region of the short arm of chromosome 16, possibly explaining the α-thalassemia/HbH disease phenotype in ten patients. We have found six different deletions, in heterozygosity, ranging from approximately 3...
September 8, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28884221/evaluation-of-the-greek-tranqol-a-novel-questionnaire-for-measuring-quality-of-life-in-transfusion-dependent-thalassemia-patients
#6
Philippos Klonizakis, Robert Klaassen, Nikolaos Sousos, Aris Liakos, Apostolos Tsapas, Efthymia Vlachaki
The aim of our study was to evaluate the Greek version of the transfusion-dependent quality of life (TranQol) questionnaire and report our experience of using this novel disease-specific quality of life (QoL) measure in patients with transfusion-dependent thalassemia (TDT). The TranQol and SF-36v2 questionnaires were administered to 94 adult TDT patients with a mean age of 32.1 years (SD = 7, range = 19-58), recruited from the Adult Thalassemia Unit of Hippokration General Hospital of Thessaloniki, Greece...
September 7, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28868518/associations-of-%C3%AE-thalassemia-and-bcl11a-with-stroke-in-nigerian-united-states-and-united-kingdom-sickle-cell-anemia-cohorts
#7
Santosh L Saraf, Titilola S Akingbola, Binal N Shah, Chinedu A Ezekekwu, Omowunmi Sonubi, Xu Zhang, Lewis L Hsu, Mark T Gladwin, Roberto F Machado, Richard S Cooper, Victor R Gordeuk, Bamidele O Tayo
Alpha-thalassemia and the BCL11A rs1427407 T allele are commonly observed in sickle cell anemia (SCA) patients and are associated with reduced hemolysis and higher hemoglobin F levels, respectively. We investigated whether a high-risk genetic profile, defined as SCA patients who did not inherit either α-thalassemia or the BCL11A rs1427407 T allele, had stronger associations with clinical and laboratory variables than the individual genetic components in the University of Ibadan cohort (n=249). We then replicated our findings in SCA cohorts from the University of Illinois at Chicago (UIC)(n=260) and Walk-Treatment of Pulmonary Hypertension and Sickle cell disease with Sildenafil Therapy (Walk-PHaSST)(n=387)...
April 25, 2017: Blood Advances
https://www.readbyqxmd.com/read/28795231/radiation-induced-gliomas-a-report-of-four-cases-and-analysis-of-molecular-biomarkers
#8
Tsunehito Nakao, Yasuo Sasagawa, Sumihito Nobusawa, Yasushi Takabatake, Hemragul Sabit, Masashi Kinoshita, Katsuyoshi Miyashita, Yasuhiko Hayashi, Hideaki Yokoo, Mitsutoshi Nakada
Radiation-induced glioma (RIG) is a rare secondary glioma. The tumors morphologically resemble their sporadically arising counterparts. Recently, the WHO classification of tumors of the central nervous system was revised to incorporate molecular biomarkers together with classic histological features. The status of molecular biomarkers in RIG, however, remains unclear. The objective of this study was to investigate if commonly accepted glioma-specific biomarkers are relevant in RIGs. Among 269 gliomas diagnosed as WHO grade 2, 3 and 4 in our institution, four were diagnosed as RIGs...
August 9, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#9
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#10
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777854/-a-novel-double-heterozygote-of-hbb-c-219t-a-220g-t-gene-diagnosis-and-pedigree-analysis
#11
Jiezhong Lv, Zhaofan Luo, Jianpei Fang, Tao Du, Hongman Xue, Yong Liu, Jianping Zhang
OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#12
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28686324/demographics-and-co-occurring-conditions-in-a-clinic-based-cohort-with-down-syndrome-in-the-united-arab-emirates
#13
Jennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri, Fares Chedid
The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28684426/arabidopsis-atrx-modulates-h3-3-occupancy-and-fine-tunes-gene-expression
#14
Céline Duc, Matthias Benoit, Gwénaëlle Détourné, Lauriane Simon, Axel Poulet, Matthieu Jung, Alaguraj Veluchamy, David Latrasse, Samuel Le Goff, Sylviane Cotterell, Christophe Tatout, Moussa Benhamed, Aline V Probst
Histones are essential components of the nucleosome, the major chromatin subunit that structures linear DNA molecules and regulates access of other proteins to DNA. Specific histone chaperone complexes control the correct deposition of canonical histones and their variants to modulate nucleosome structure and stability. In this study, we characterize the Arabidopsis thaliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ortholog and show that ATRX is involved in histone H3 deposition. Arabidopsis ATRX mutant alleles are viable, but show developmental defects and reduced fertility...
July 2017: Plant Cell
https://www.readbyqxmd.com/read/28669403/a-genetic-variant-ameliorates-%C3%AE-thalassemia-severity-by-epigenetic-mediated-elevation-of-human-fetal-hemoglobin-expression
#15
Diyu Chen, Yangjin Zuo, Xinhua Zhang, Yuhua Ye, Xiuqin Bao, Haiyan Huang, Wanicha Tepakhan, Lijuan Wang, Junyi Ju, Guangfu Chen, Mincui Zheng, Dun Liu, Shuodan Huang, Lu Zong, Changgang Li, Yajun Chen, Chenguang Zheng, Lihong Shi, Quan Zhao, Qiang Wu, Supan Fucharoen, Cunyou Zhao, Xiangmin Xu
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28667380/variants-in-the-non-coding-region-of-the-tlr2-gene-associated-with-infectious-subphenotypes-in-pediatric-sickle-cell-anemia
#16
Susana David, Pedro Aguiar, Liliana Antunes, Alexandra Dias, Anabela Morais, Anavaj Sakuntabhai, João Lavinha
Sickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's infectious disease phenotype and three non-coding polymorphic regions of the TLR2 gene, the -196 to -174 indel, SNP rs4696480, and a (GT)n short tandem repeat. The infectious subphenotypes included (A) recurrent respiratory infections and (B) severe bacterial infection at least once during the patient's follow-up...
June 30, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28598129/-genotype-of-thalassemia-in-han-chinese-and-tibetans-in-sichuan-province-china
#17
Qian Niu, Xun-Bei Huang, Yun-Fei An, Jun Wang, Hong Jiang
OBJECTIVES: To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. METHODS: A total of 1 147 Han adults and 613 adult Tibetans were included in this study.Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer.Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume (MCV) <85 fL and a mean corpuscular hemoglobin (MCH) <27 pg...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28592815/impact-of-genotype-on-endocrinal-complications-of-children-with-alpha-thalassemia-in-china
#18
Hong-Cheng Luo, Qi-Sheng Luo, Fu-Gao Huang, Chun-Fang Wang, Ye-Sheng Wei
Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (-SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However report on endocrinal complications in children with alpha thalassemia in China are still absent. The present study aimed to investigate the impact of genotype on endocrinal complications in Chinese children. Association analysis between genotype and endocrinal compliaction development was conducted on 200 patients with 200 healthy controls...
June 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28567595/do-alpha-thalassemia-fetal-hemoglobin-and-the-ugt1a1-polymorphism-have-an-influence-on-serum-bilirubin-levels-and-cholelithiasis-in-patients-with-sickle-cell-disease
#19
Laura Alencastro de Azevedo, Joyce Bonazzoni, Sandrine Comparsi Wagner, Mariela Granero Farias, Christina M Bittar, Liane Daudt, Simone Martins de Castro
BACKGROUND: Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones. OBJECTIVES: The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease. METHODS: We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28546523/alk-protein-expression-is-related-to-neuroblastoma-aggressiveness-but-is-not-independent-prognostic-factor
#20
Ji Won Lee, Sung Hye Park, Hyoung Jin Kang, Kyung Duk Park, Hee Young Shin, Hyo Seop Ahn
Purpose: In this study, anaplastic lymphoma kinase (ALK) mutation and amplification, ALK protein expression, loss of the nuclear alpha thalassemia/mental retardation syndrome X-linked (ATRX) protein, and telomerase reverse transcriptase (TERT) protein expression were studied to investigate potential correlations between these molecular characteristics and clinical features or outcomes in neuroblastoma. Materials and Methods: Seventy-two patients were enrolled in this study...
May 22, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
keyword
keyword
16672
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"