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[PMID]: 29218432
[Au] Autor:Rogers TW; Toor G; Drummond K; Love C; Field K; Asher R; Tsui A; Buckland M; Gonzales M
[Ad] Address:Department of Anatomical Pathology, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.
[Ti] Title:The 2016 revision of the WHO Classification of Central Nervous System Tumours: retrospective application to a cohort of diffuse gliomas.
[So] Source:J Neurooncol;137(1):181-189, 2018 Mar.
[Is] ISSN:1573-7373
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Additionally, expression of proteins encoded by alpha-thalassemia X-linked mental retardation (ATRX) and TP53 genes was assessed by immunohistochemistry. We found that all but two tumours could be assigned to a specific category in the 2016 revision. The most common change in diagnosis was from oligoastrocytoma to specifically astrocytoma or oligodendroglioma. Analysis of progression free survival (PFS) for WHO grade II and III tumours showed that the objective criteria of the 2016 revision separated diffuse gliomas into three distinct molecular categories: chromosome 1p/19q co-deleted/IDH mutant, intact 1p/19q/IDH mutant and IDH wild type. No significant difference in PFS was found when comparing IDH mutant grade II and III tumours suggesting that IDH status is more informative than tumour grade. The segregation into distinct molecular sub-types that is achieved by the 2016 revision provides an objective evidence base for managing patients with grade II and III diffuse gliomas based on prognosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:In-Data-Review
[do] DOI:10.1007/s11060-017-2710-7

  2 / 2490 MEDLINE  
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[PMID]: 29468261
[Au] Autor:Hempel JM; Schittenhelm J; Klose U; Bender B; Bier G; Skardelly M; Tabatabai G; Castaneda Vega S; Ernemann U; Brendle C
[Ad] Address:Department of Neuroradiology, Eberhard Karls University, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany. johann-martin.hempel@uni-tuebingen.de.
[Ti] Title:In Vivo Molecular Profiling of Human Glioma : Cross-Sectional Observational Study Using Dynamic Susceptibility Contrast Magnetic Resonance Perfusion Imaging.
[So] Source:Clin Neuroradiol;, 2018 Feb 21.
[Is] ISSN:1869-1447
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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. A classification and regression tree (CART) algorithm with 10-fold cross-validation was used to calculate the diagnostic accuracy. RESULTS: The 90th percentile (C90) of rCBV was significantly lower in patients with the isocitrate dehydrogenase 1/2 (IDH1/2) mutation (2.86 ± 1.21; p < 0.001) and loss of alpha-thalassemia mental retardation syndrome X­linked (ATRX) expression (2.23 ± 0.91; p < 0.001) than in those with the IDH1/2 wild type (4.78 ± 2.34) and maintained ATRX expression (4.30 ± 2.02). The standard deviation (SD) of rCBV was significantly higher in glioblastoma (GBM) with methylated O6-methylguanine DNA methyltransferase (MGMT; 1.99 ± 0.73; p = 0.001) than in those with unmethylated MGMT (1.20 ± 0.45). In CART analysis, rCBV predicted the molecular subgroup in 76.3% of astroglial tumors; however, the diagnostic performance was reduced to 48.1% by including oligodendrogliomas with chromosome 1p/19q co-deletion in the analysis due to substantial overlap of rCBV values between OD and IDH GBM. CONCLUSION: The DSC-MRI procedure may provide insight into the IDH1/2 mutation and ATRX expression status and MGMT methylation profile of diffuse glioma; however, taking integrated oligodendroglioma into account limits the diagnostic performance of rCBV in non-invasively predicting the molecular subtype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.1007/s00062-018-0676-2

  3 / 2490 MEDLINE  
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[PMID]: 29449005
[Au] Autor:Renoux C; Joly P; Faes C; Mury P; Eglenen B; Turkay M; Yavas G; Yalcin O; Bertrand Y; Garnier N; Cuzzubbo D; Gauthier A; Romana M; Möckesch B; Cannas G; Antoine-Jonville S; Pialoux V; Connes P
[Ad] Address:Inter-University Laboratory of Human Movement Biology (LIBM) EA7424, Team Vascular Biology and Red Blood Cell Team, University Claude Bernard Lyon, Villeurbanne, France; Laboratory of Excellence on Red Blood Cell (Labex GR-Ex), PRES Sorbonne, Paris, France; Department of Biochemistry on Red Blood Ce
[Ti] Title:Association between Oxidative Stress, Genetic Factors, and Clinical Severity in Children with Sickle Cell Anemia.
[So] Source:J Pediatr;, 2018 Feb 13.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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 Sß ). Twelve ethnic-matched children without sickle cell anemia also participated as healthy controls (AA) for oxidative and nitrosative stress level measurement. RESULTS: Oxidative and nitrosative stress were greater in patients with sickle cell anemia compared with control patients, but the rate of vaso-occlusive crisis events in sickle cell anemia was not associated with the level of oxidative stress. The presence of alpha-thalassemia, but not glucose-6-phosphate dehydrogenase deficiency or beta-globin haplotype, modulated the level of oxidative stress in children with sickle cell anemia. CONCLUSION: Mild hemolysis in children with alpha-thalassemia may limit oxidative stress and could explain the protective role of alpha-thalassemia in hemolysis-related sickle cell complications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:Publisher

  4 / 2490 MEDLINE  
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[PMID]: 28743675
[Au] Autor:Cardiero G; Scarano C; Musollino G; Di Noce F; Prezioso R; Dembech S; La Porta G; Caldora M; Bisconte MG; Colella Bisogno R; Lacerra G
[Ad] Address:Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso" - CNR, Napoli, Italy.
[Ti] Title:Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants.
[So] Source:Int J Biochem Cell Biol;91(Pt B):212-222, 2017 10.
[Is] ISSN:1878-5875
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:α-thalassemia is a common disease characterized mainly by deletion mutants. We identified two new α-thalassemia pointform mutants: α1cod22 GGC>GGT Gly>Gly creating a 5' splicing sequence and α1cod23 GAG>TAG Glu>stop. We performed qualitative and semi-quantitative analysis of the mRNA molecules, from carriers' blood, to define the molecular mechanisms giving rise to the thalassemia phenotype. In vitro analysis using α-globin constructs and cycloheximide was performed to evaluate if the mutants are substrates of nonsense-mediated mRNA decay (NMD). In the α1cod22 GGC>GGT the new 5' splicing site in exon 1 completely substitutes the normal one. We demonstrated the presence of mRNA decay as the abnormally spliced mRNA was consistent in the nucleus, partially degraded in the cytoplasm of cultured cells, but only 2.8% in the reticulocytes. The analysis of the αcod23 transcript showed an escape from the NMD as for the human ß-globin transcript with nonsense mutations in the first exon: the anomalous mRNA was reduced in the nucleus, followed by only a slight lowering from 32% to 27% of the normal α1 mRNA in the reticulocytes. In both the mutants we showed a moderate sensitivity to the NMD assay and we speculate the activation of other RNA surveillance mechanisms for the αcod22 mutant. No activation of cryptic splice sites was detected and no role could be assigned to the nonsense-associated altered splicing. Studies on transcripts from patient cells represent a very useful approach providing considerable information about the processes occuring in vivo.
[Mh] MeSH terms primary: Alternative Splicing
Nonsense Mediated mRNA Decay
alpha-Thalassemia/genetics
[Mh] MeSH terms secundary: Base Sequence
Female
HeLa Cells
Humans
Male
Mutation
Pedigree
RNA, Messenger/genetics
alpha-Globins/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (RNA, Messenger); 0 (alpha-Globins)
[Em] Entry month:1711
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[Js] Journal subset:IM
[Da] Date of entry for processing:170727
[St] Status:MEDLINE

  5 / 2490 MEDLINE  
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[PMID]: 29294574
[Au] Autor:Pang T; Guo XF; Zhou YH; Qiu XQ; Li S; Liang ZR; Qin XL; Li KH; Zeng XY
[Ad] Address:Department of Epidemiology and Health Statistic, School of Public Health, Guangxi Medical University, Nanning 530021, China.
[Ti] Title:[Outcomes of pregnancy among women with alpha-thalassemia minor: A retrospective study of Pingguo county in Guangxi Zhuang Autonomous Region].
[So] Source:Zhonghua Liu Xing Bing Xue Za Zhi;38(12):1620-1623, 2017 Dec 10.
[Is] ISSN:0254-6450
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To investigate the association between the value of α-thalassemia minor and the outcomes in pregnant women. A total of 445 pregnant women with α-thalassemia minor were selected as thalassemia group in the Pingguo County Maternal and Child Health Hospital of Guangxi from January 2011 to December 2015, with ratio of 1∶4 healthy pregnant women was randomly recruited as non-thalassemia group. Clinical characteristics and pregnancy outcomes of the two groups were retrospectively analyzed using methods including test, (2) test, and logistic regression model and ROC curve. There were no significant differences noticed in factors as age, BMI, gestational age and educational level of the two groups. Hemoglobin of the thalassemia group was significantly lower than that of the non-thalassemia group ( <0.001). Differences on parity, ethnicities or occupation were statistically significant. Results from univariate analysis showed that the proportions of low birth weight, small for date infant and 1 min Apgar score<7 were higher in the thalassemia group, but the ratio of adverse pregnancy outcomes was comparable on parameters as preterm birth, stillbirth, macrosomia. Findings from the unconditional logistic regression showed that pregnancy complicated with α-thalassemia minor appeared a risk for both newborns with low birth weight (a =2.29, 95% : 1.32-3.95) and small for date infant (a = 2.11, 95% : 1.16-3.84). The ROC curve showed that α-thalassemia minor combined with multiple indicators presented a certain predictive value on neonatal birth weight. Pregnancy complicated with α-thalassemia minor was likely to increase the risk of birth weight loss in newborns, suggesting that prenatal care for pregnant women with thalassemia be strengthened, in order to reduce the incidence of adverse pregnancy outcomes.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180102
[Lr] Last revision date:180102
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.0254-6450.2017.12.007

  6 / 2490 MEDLINE  
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[PMID]: 28981928
[Au] Autor:Tian J; Tang D; Yang S; Wang J; Ai Y; Zhang M
[Ad] Address:Yongzhou Women and Children Health Care Hospital, Yongzhou, Hunan 425000, China. 1174591650@qq.com.
[Ti] Title:[Molecular epidemiological survey of hemoglobinopathies in Yongzhou area of Hunan province].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(5):662-665, 2017 Oct 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program. METHODS: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait. The remaining samples with positive phenotype and unknown mutations were subjected to DNA sequence analysis. RESULTS: Two hundred and forty individuals were found to be carriers of hemoglobinopathic mutations, which included 6 common alpha-thalassemia deletions, 9 common beta-thalassemia mutations and 3 common structural hemoglobin variants. One hundred and seventy-four mutant alleles for alpha-thalassemia were detected, which gave a carrier rate of 8.69%, of which 0.1% was due to HbH disease. Seventy mutant alleles for beta-thalassemia were detected, which gave a carrier rate of 3.50%. Seven subjects (0.35%) were identified as carriers of hemoglobin variants. The overall carrier rate for hemoglobinopathic mutations was 12.54% based on detection of 251 hemoglobinopathy mutant alleles. The overall carrier rate for alpha- and beta-thalassemia among ethnic Yaos was 25.00%, which was significantly higher than that of ethnic Han Chinese (11.14%, P< 0.01). CONCLUSION: The prevalence and mutation spectrum of hemoglobinopathies in Yongzhou area has been delineated for the first time.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171005
[Lr] Last revision date:171005
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.05.009

  7 / 2490 MEDLINE  
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[PMID]: 28887661
[Au] Autor:Ferrão J; Silva M; Gonçalves L; Gomes S; Loureiro P; Coelho A; Miranda A; Seuanes F; Reis AB; Pina F; Maia R; Kjöllerström P; Monteiro E; Lacerda JF; Lavinha J; Gonçalves J; Faustino P
[Ad] Address:Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), Avenida Padre Cruz, 1649-016, Lisbon, Portugal.
[Ti] Title:Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia.
[So] Source:Ann Hematol;96(11):1921-1929, 2017 Nov.
[Is] ISSN:1432-0584
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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 3.3 to 323 kb, two of them not previously described. The deletions fall into two categories: one includes deletions which totally remove the α-globin gene cluster, whereas the other includes deletions removing only the distal regulatory elements and keeping the α-globin genes structurally intact. An indel was observed in one patient involving the loss of the MCS-R2 and the insertion of 39 bp originated from a complex rearrangement spanning the deletion breakpoints. Finally, in another case, no α-globin gene cluster deletion was found and the patient revealed to be a very unusual case of acquired α-thalassemia-myelodysplastic syndrome. This study further illustrates the diversity of genomic lesions and underlying molecular mechanisms leading to α-thalassemia.
[Mh] MeSH terms primary: Gene Deletion
Hemoglobins/genetics
Point Mutation/genetics
alpha-Thalassemia/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Base Sequence
Child
Female
Humans
Male
Middle Aged
Young Adult
alpha-Thalassemia/diagnosis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Hemoglobins)
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[Js] Journal subset:IM
[Da] Date of entry for processing:170910
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3090-y

  8 / 2490 MEDLINE  
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[PMID]: 28868518
[Au] Autor:Saraf SL; Akingbola TS; Shah BN; Ezekekwu CA; Sonubi O; Zhang X; Hsu LL; Gladwin MT; Machado RF; Cooper RS; Gordeuk VR; Tayo BO
[Ad] Address:Division of Hematology & Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL USA.
[Ti] Title:Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts.
[So] Source:Blood Adv;1(11):693-698, 2017 Apr 25.
[Is] ISSN:2473-9529
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alpha-thalassemia and the 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 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). High-risk was associated with higher reticulocytes (15.0% vs. 7.8%, =0.08) and stroke history (6% vs. 1%, =0.02) than standard risk patients and these associations were more significant than the individual genetic components in the University of Ibadan cohort. These findings were replicated in high-risk patients from UIC and Walk-PHaSST for reticulocytes (UIC: 13.5% vs. 11.8%, =0.03; Walk-PHaSST: 9.6% vs. 8.2%, =0.0003) and stroke history (UIC: 32% vs. 22%, =0.07; Walk-PHaSST: 14% vs. 7%, =0.01). On combined analysis, high-risk had strong associations with increased markers of hemolysis (hemoglobin ß= -0.29, 95%CI: -0.50 to -0.09; =0.006; reticulocyte% ß=2.29, 95%CI: 1.31 to 3.25; =1x10 ) and stroke history (OR=2.0, 95%CI: 1.3 to 3.0; =0.0002), but no association with frequent vaso-occlusive crises (≥3/year). A high-risk genetic profile is associated with increased hemolysis and stroke history in three independent cohorts. This profile may help identify patients to prioritize for hydroxyurea and for closer monitoring strategies for stroke.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1182/bloodadvances.2017005231

  9 / 2490 MEDLINE  
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[PMID]: 28768839
[Au] Autor:Barker MK; Henderson AM; Naguib K; Vercauteren SM; Devlin AM; Albert AY; Bahizire E; Tugirimana PL; Akilimali PZ; Boy E; Green TJ; Karakochuk CD
[Ad] Address:Food, Nutrition, and Health and.
[Ti] Title:Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or α-Thalassemia.
[So] Source:J Nutr;147(9):1785-1794, 2017 Sep.
[Is] ISSN:1541-6100
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Anemia is common in Congolese children, and inherited blood disorders may be a contributing cause. The presence of sickle cell variants, X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency and α-thalassemia, has been previously reported. A- deficiency is characterized by the co-inheritance of 376 and 202 variants and is common in sub-Saharan Africa. We aimed to measure the associations between inherited blood disorders and hemoglobin, ferritin, and soluble transferrin receptor (sTfR) concentrations in Congolese children. Venous blood was collected from 744 children aged 6-59 mo from 2 provinces. We measured biomarkers of nutritional and inflammation status and malaria. Pyrosequencing was used to detect sickle cell variants. Polymerase chain reaction was used to detect variants and α-thalassemia deletions. Overall, 11% of children had a sickle cell variant, 19% of boys were A- hemizygotes, 12% and 10% of girls were A- hetero- or homozygotes, respectively, and 12% of children had α-thalassemia. Multivariable linear regression models (adjusted for age, province, altitude, malaria, and biomarkers of nutritional and inflammation status) showed that A- hemizygous boys and 376 homozygous girls had higher sTfR concentrations [geometric mean ratios (95% CIs): 1.20 (1.03, 1.39) and 1.25 (1.02, 1.53), respectively] than children with no variants. Hemoglobin and ferritin concentrations were not independently associated with any of the inherited blood disorder genotypes. We found that 2 variant genotypes were associated with elevated sTfR concentrations, which limits the accuracy of sTfR as a biomarker of iron status in this population.
[Mh] MeSH terms primary: Anemia, Iron-Deficiency/blood
Genetic Variation
Genotype
Glucosephosphate Dehydrogenase Deficiency/genetics
Glucosephosphate Dehydrogenase/genetics
Iron/deficiency
Receptors, Transferrin/blood
[Mh] MeSH terms secundary: Anemia, Iron-Deficiency/complications
Anemia, Sickle Cell/blood
Anemia, Sickle Cell/epidemiology
Anemia, Sickle Cell/genetics
Biomarkers/blood
Child, Preschool
Democratic Republic of the Congo/epidemiology
Female
Ferritins/blood
Glucosephosphate Dehydrogenase Deficiency/blood
Glucosephosphate Dehydrogenase Deficiency/complications
Glucosephosphate Dehydrogenase Deficiency/epidemiology
Hemoglobins/metabolism
Humans
Infant
Iron/blood
Male
Nutritional Status
Sex Factors
alpha-Thalassemia/blood
alpha-Thalassemia/epidemiology
alpha-Thalassemia/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers); 0 (Hemoglobins); 0 (Receptors, Transferrin); 9007-73-2 (Ferritins); E1UOL152H7 (Iron); EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
[Em] Entry month:1709
[Cu] Class update date: 170913
[Lr] Last revision date:170913
[Js] Journal subset:IM
[Da] Date of entry for processing:170804
[St] Status:MEDLINE
[do] DOI:10.3945/jn.117.252635

  10 / 2490 MEDLINE  
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[PMID]: 28699687
[Au] Autor:Al Balushi HWM; Wali Y; Al Awadi M; Al-Subhi T; Rees DC; Brewin JN; Hannemann A; Gibson JS
[Ad] Address:Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
[Ti] Title:The super sickling haemoglobin HbS-Oman: a study of red cell sickling, K permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype).
[So] Source:Br J Haematol;179(2):256-265, 2017 Oct.
[Is] ISSN:1365-2141
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Studying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K was markedly abnormal with elevated activities of P , Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca entry and Mg loss via P stimulating Gardos channel and KCC activities. The abnormal red cell behaviour was similar to that in the commonest genotype of SCD, HbSS, in which the level of mutated Hb is considerably higher. Although activities of all three K transporters also correlated with the level of HbS-Oman, there was no association between transport phenotype and disease severity. The super sickling behaviour of HbS-Oman may obviate the need for solute loss and red cell dehydration to encourage Hb polymerisation, required in other SCD genotypes. Disease severity was reduced by concurrent α thalassaemia, as observed in other SCD genotypes, and represents an obvious genetic marker for prognostic tests of severity in young SCD patients of the HbA/S-Oman genotype.
[Mh] MeSH terms primary: Erythrocytes, Abnormal/metabolism
Hemoglobin A/genetics
Hemoglobins, Abnormal/genetics
Heterozygote
Intermediate-Conductance Calcium-Activated Potassium Channels/metabolism
Potassium/metabolism
alpha-Thalassemia
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Child
Child, Preschool
Female
Humans
Intermediate-Conductance Calcium-Activated Potassium Channels/genetics
Male
Middle Aged
Permeability
Severity of Illness Index
alpha-Thalassemia/genetics
alpha-Thalassemia/metabolism
[Pt] Publication type:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Name of substance:0 (Hemoglobins, Abnormal); 0 (Intermediate-Conductance Calcium-Activated Potassium Channels); 0 (KCNN4 protein, human); 0 (hemoglobin S-Oman); 9034-51-9 (Hemoglobin A); RWP5GA015D (Potassium)
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[Js] Journal subset:IM
[Da] Date of entry for processing:170713
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14851


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