scholarly journals Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Monica Pirastru ◽  
Laura Manca ◽  
Sandro Trova ◽  
Paolo Mereu
Keyword(s):  
Molecular Analysis ◽  
Large Scale ◽  
Globin Gene ◽  
Globin Genes ◽  
Screening Programs ◽  
First Occurrence ◽  
Red Cell Indices ◽  
Clinically Significant ◽  
Set Up ◽  
Dependent Probe

Hemoglobin (Hb) Lepore is composed of two normalαchains and twoδβfusion globins that arise from unequal crossover events between theδ- andβ-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with aβ-thalassemia phenotype. Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual. The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices. The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing. This latter allowed us to define the correct structure of the hybridδβ-globin gene. The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments

2012 ◽  
Vol 50 (4) ◽  
Author(s):  
Zong-Ping Mo ◽  
Chang-Shun Yu ◽  
Ya-Juan Li ◽  
Wei-xi Cao ◽  
Zheng-Yu Zeng ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Globin Gene ◽  
Globin Genes ◽  
Gene Deletions ◽  
Mean Values ◽  
Allele Dosage ◽  
The Common ◽  
Polymerase Chain ◽  
Set Up ◽  
Dependent Probe

AbstractThe aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of short fluorescent fragments (QMPSF) for the α-globin genes (We set up and validated HBA-QMPSF using 50 negative and 100 positive controls of deletional α-thalassemia. To evaluate its ability to detect the presence of the common and unusual or unknown α-globin gene deletions, 579 unrelated samples were simultaneously analyzed using this assay and multiplex Gap polymerase chain reaction (Gap-PCR). The inconsistent results were further confirmed by multiplex ligation-dependent probe amplification (MLPA).HBA-QMPSF was capable of detecting α-globin gene deletions with an acceptable variability as shown by mean values (SD) of allele dosage for the heterozygous deleted control obtained from intra- and inter-experimental replicates [0.63 (0.01) and 0.61 (0.03)]. In 572 out of the 579 unrelated subjects, HBA-QMPSF and multiplex Gap-PCR gave consistent results. In seven cases which were finally proved to be composed of one rare deletion --HBA-QMPSF is able to detect the presence of the common and unusual or unknown α-thalassemia deletions and duplications. It can be used as an initial screening test for α-thalassemia caused by

Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction

Blood ◽  
1983 ◽  
Vol 62 (1) ◽  
pp. 226-229 ◽  
Author(s):  
MA Melis ◽  
M Pirastu ◽  
R Galanello ◽  
M Furbetta ◽  
T Tuveri ◽  
...  
Keyword(s):  
Globin Gene ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Phenotypic Effect ◽  
Screening Programs ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Red Blood Cell Indices ◽  
Endonuclease Mapping ◽  
Glucose 6 Phosphate Dehydrogenase

In this study, we carried out restriction endonuclease mapping in order to characterize the alpha-globin genotype of 10 Sardinian beta 0- thalassemia heterozygotes, all of whom presented with normal red blood cell indices and increased HbA2 levels. In 8 of these subjects, we found the deletion of two alpha-globin genes (-alpha/-alpha), and in the remaining two the deletion of a single alpha-globin gene (- alpha/alpha alpha). In three of these carriers with the (-alpha/-alpha) alpha-globin genotype and in one with the (-alpha/alpha alpha) genotype, we also found the glucose-6-phosphate dehydrogenase (G6PD) defect of the Mediterranean type. On the basis of these findings, we may conclude that the interaction of heterozygous beta 0-thalassemia with alpha-thalassemia, due to the deletion of either one or two alpha- globin genes, may lead to the production of red blood cells with normal indices. The association of the G6PD defect with this thalassemia gene complex may eventually contribute to this effect. We suggest, therefore, that screening programs for heterozygous beta-thalassemia in populations where alpha-thalassemia is also prevalent, should incorporate the determination of HbA2 in the first set of tests.

scholarly journals Coexistence of rare variant HbD Punjab [α2β2121(Glu→Gln)] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India

2015 ◽  
Vol 20 (5) ◽  
Author(s):  
Arijit Ghosh ◽  
Jayasri Basak ◽  
Ashis Mukhopadhyay
Keyword(s):  
Hematological Parameters ◽  
Globin Gene ◽  
Globin Genes ◽  
Heterozygous State ◽  
Chromosome 16 ◽  
Homozygous State ◽  
Globin Chains ◽  
Alpha Thalassemia ◽  
Clinically Significant ◽  
Hbd Punjab

AbstractHbD Punjab is a variant of hemoglobin which occurs as a result of mutation in codon 121 (GAA>CAA) of the β-globin gene, which replaces glutamic acid with glutamine (Glu→Gln). The heterozygous state of HbD does not produce any clinical or hematological symptoms, although its association with HbS and thalassemia produces clinically significant but less severe conditions. The homozygous state produces mild hemolytic anemia and mild to moderate splenomegaly. Alpha-thalassemia is characterized by reduction or absence of the α-globin chains due to deletional or non-deletional mutations of α-globin genes located on chromosome 16. The present study describes a Hindu family where both HbD Punjab and alpha 3.7 kb deletion are present among the members in the heterozygous and double heterozygous state. Comparison of clinical and hematological parameters between the heterozygous and double heterozygous state of HbD and the alpha 3.7 kb deletion is also discussed here. According to our study, the prevalence rate of HbD Punjab is very low, i.e. 0.06%.

scholarly journals Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction

Blood ◽  
1983 ◽  
Vol 62 (1) ◽  
pp. 226-229 ◽  
Author(s):  
MA Melis ◽  
M Pirastu ◽  
R Galanello ◽  
M Furbetta ◽  
T Tuveri ◽  
...  
Keyword(s):  
Globin Gene ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Phenotypic Effect ◽  
Screening Programs ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Red Blood Cell Indices ◽  
Endonuclease Mapping ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract In this study, we carried out restriction endonuclease mapping in order to characterize the alpha-globin genotype of 10 Sardinian beta 0- thalassemia heterozygotes, all of whom presented with normal red blood cell indices and increased HbA2 levels. In 8 of these subjects, we found the deletion of two alpha-globin genes (-alpha/-alpha), and in the remaining two the deletion of a single alpha-globin gene (- alpha/alpha alpha). In three of these carriers with the (-alpha/-alpha) alpha-globin genotype and in one with the (-alpha/alpha alpha) genotype, we also found the glucose-6-phosphate dehydrogenase (G6PD) defect of the Mediterranean type. On the basis of these findings, we may conclude that the interaction of heterozygous beta 0-thalassemia with alpha-thalassemia, due to the deletion of either one or two alpha- globin genes, may lead to the production of red blood cells with normal indices. The association of the G6PD defect with this thalassemia gene complex may eventually contribute to this effect. We suggest, therefore, that screening programs for heterozygous beta-thalassemia in populations where alpha-thalassemia is also prevalent, should incorporate the determination of HbA2 in the first set of tests.

Platelet Anti-Aggregating Activity and Tolerance of Clopidogrel in Atherosclerotic Patients

1996 ◽  
Vol 76 (06) ◽  
pp. 0939-0943 ◽  
Author(s):  
B Boneu ◽  
G Destelle ◽  
Keyword(s):  
Platelet Aggregation ◽  
Large Scale ◽  
Bleeding Time ◽  
Antithrombotic Activity ◽  
Ambulatory Patients ◽  
Patients At Risk ◽  
Set Up ◽  
Ischemic Events ◽  
Large Scale Clinical Trial ◽  
Selection Of

SummaryThe anti-aggregating activity of five rising doses of clopidogrel has been compared to that of ticlopidine in atherosclerotic patients. The aim of this study was to determine the dose of clopidogrel which should be tested in a large scale clinical trial of secondary prevention of ischemic events in patients suffering from vascular manifestations of atherosclerosis [CAPRIE (Clopidogrel vs Aspirin in Patients at Risk of Ischemic Events) trial]. A multicenter study involving 9 haematological laboratories and 29 clinical centers was set up. One hundred and fifty ambulatory patients were randomized into one of the seven following groups: clopidogrel at doses of 10, 25, 50,75 or 100 mg OD, ticlopidine 250 mg BID or placebo. ADP and collagen-induced platelet aggregation tests were performed before starting treatment and after 7 and 28 days. Bleeding time was performed on days 0 and 28. Patients were seen on days 0, 7 and 28 to check the clinical and biological tolerability of the treatment. Clopidogrel exerted a dose-related inhibition of ADP-induced platelet aggregation and bleeding time prolongation. In the presence of ADP (5 \lM) this inhibition ranged between 29% and 44% in comparison to pretreatment values. The bleeding times were prolonged by 1.5 to 1.7 times. These effects were non significantly different from those produced by ticlopidine. The clinical tolerability was good or fair in 97.5% of the patients. No haematological adverse events were recorded. These results allowed the selection of 75 mg once a day to evaluate and compare the antithrombotic activity of clopidogrel to that of aspirin in the CAPRIE trial.

Gambling-like video game practices: A cross-sectional study of links with problem gambling and disordered gaming

2019 ◽  
Author(s):  
David Zendle
Keyword(s):  
Video Games ◽  
Problem Gambling ◽  
Video Game ◽  
Large Scale ◽  
Significant Degree ◽  
Cross Sectional Study ◽  
Video Gaming ◽  
Cross Sectional ◽  
Streaming Services ◽  
Clinically Significant

A variety of practices have recently emerged which are related to both video games and gambling. Most prominent of these are loot boxes. However, a broad range of other activities have recently emerged which are also related to both gambling and video games: esports betting, real-money video gaming, token wagering, social casino play, and watching videos of both loot box opening and gambling on game streaming services like Twitch.Whilst a nascent body of research has established the robust existence of a relationship between loot box spending and both problem gambling and disordered gaming, little research exists which examines whether similar links may exist for the diverse practices outlined above. Furthermore, no research has thus far attempted to estimate the prevalence of these activities.A large-scale survey of a representative sample of UK adults (n=1081) was therefore conducted in order to investigate these issues. Engagement in all measured forms of gambling-like video game practices were significantly associated with both problem gambling and disordered gaming. An aggregate measure of engagement was associated with both these outcomes to a clinically significant degree (r=0.23 and r=0.43). Engagement in gambling-like video game practices appeared widespread, with a 95% confidence interval estimating that 16.3% – 20.9% of the population engaged in these activities at least once in the last year. Engagement in these practices was highly inter-correlated: Individuals who engaged in one practice were likely to engage in several more.Overall, these results suggest that the potential effects of the blurring of lines between video games and gambling should not primarily be understood to be due to the presence of loot boxes in video games. They suggest the existence of a convergent ecosystem of gambling-like video game practices, whose causal relationships with problem gambling and disordered gaming are currently unclear but must urgently be investigated.

MODELING THE SOUTH ATLANTIC OCEAN FROM MEDIUM TO HIGH RESOLUTION

2014 ◽  
Vol 31 (2) ◽  
Author(s):  
Mariela Gabioux ◽  
Vladimir Santos da Costa ◽  
Joao Marcos Azevedo Correia de Souza ◽  
Bruna Faria de Oliveira ◽  
Afonso De Moraes Paiva
Keyword(s):  
High Resolution ◽  
Atlantic Ocean ◽  
Large Scale ◽  
South Atlantic ◽  
Surface Relaxation ◽  
The South ◽  
Small Surface ◽  
Basic Model ◽  
Basic Set ◽  
Set Up

Results of the basic model configuration of the REMO project, a Brazilian approach towards operational oceanography, are discussed. This configuration consists basically of a high-resolution eddy-resolving, 1/12 degree model for the Metarea V, nested in a medium-resolution eddy-permitting, 1/4 degree model of the Atlantic Ocean. These simulations performed with HYCOM model, aim for: a) creating a basic set-up for implementation of assimilation techniques leading to ocean prediction; b) the development of hydrodynamics bases for environmental studies; c) providing boundary conditions for regional domains with increased resolution. The 1/4 degree simulation was able to simulate realistic equatorial and south Atlantic large scale circulation, both the wind-driven and the thermohaline components. The high resolution simulation was able to generate mesoscale and represent well the variability pattern within the Metarea V domain. The BC mean transport values were well represented in the southwestern region (between Vitória-Trinidade sea mount and 29S), in contrast to higher latitudes (higher than 30S) where it was slightly underestimated. Important issues for the simulation of the South Atlantic with high resolution are discussed, like the ideal place for boundaries, improvements in the bathymetric representation and the control of bias SST, by the introducing of a small surface relaxation. In order to make a preliminary assessment of the model behavior when submitted to data assimilation, the Cooper & Haines (1996) method was used to extrapolate SSH anomalies fields to deeper layers every 7 days, with encouraging results.

scholarly journals In silico prediction of HBD gene variants in the Iranian population

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Keivan Moradi ◽  
Aboozar Mohammadi ◽  
Mohsen Kazeminia
Keyword(s):  
Persian Gulf ◽  
Globin Gene ◽  
Iranian Population ◽  
Gene Variants ◽  
In Silico Prediction ◽  
Screening Programs ◽  
Prediction Tools ◽  
Clinical Laboratories ◽  
The Persian Gulf ◽  
Thalassemia Screening

Abstract Background The quantification of hemoglobin A2 (Hb A2; α2δ2) is used as a valuable test to differentiate α- and ß-thal carriers in clinical laboratories. Therefore, the HBD (δ-globin) gene variants could result in reduced levels of Hb A2 and have implications for thalassemia screening programs. The aim of the present study was to predict the consequences of HBD gene variants identified in the Iranome project. Results The highest number of variants was in the Persian Gulf Islanders. The variants of p.Gln132Glu (HBD: c.394C>G), p.Gly17Arg (HBD: c.49G>C), p.Thr5Ile (HBD: c.14C>T), and p.Ala28Ser (HBD: c.82G>T) presented damage results in three or more prediction tools. In addition, it seems that the p.Gly30= (HBD: c.90C>T) decreases the use of authentic splice and, instead, creates a new donor splice site (DSS) or leads to the use of a cryptic DSS. Conclusions Most of these variants have been associated with a decrease in Hb A2 levels. Due to the high mutational diversity in the HBB gene in the Iranian population and the use of Hb A2 quantification to differentiate α- and ß-thal carriers among Iranian clinical laboratories, some attention should be taken to a possible co-inheritance of HBD gene variants to avoid the misdiagnosis of ß-thal carriers.

scholarly journals Vibration characteristics of triple-gear-rotor system in compressed air energy storage under variable torque load

2021 ◽  
Vol 104 (1) ◽  
pp. 003685042098705
Author(s):  
Xinran Wang ◽  
Yangli Zhu ◽  
Wen Li ◽  
Dongxu Hu ◽  
Xuehui Zhang ◽  
...  
Keyword(s):  
Large Scale ◽  
Three Dimensional ◽  
Element Model ◽  
Rotor System ◽  
Dynamic Responses ◽  
System Response ◽  
Rotating Speed ◽  
Torque Load ◽  
Set Up ◽  
Two Stages

This paper focuses on the effects of the off-design operation of CAES on the dynamic characteristics of the triple-gear-rotor system. A finite element model of the system is set up with unbalanced excitations, torque load excitations, and backlash which lead to variations of tooth contact status. An experiment is carried out to verify the accuracy of the mathematical model. The results show that when the system is subjected to large-scale torque load lifting at a high rotating speed, it has two stages of relatively strong periodicity when the torque load is light, and of chaotic when the torque load is heavy, with the transition between the two states being relatively quick and violent. The analysis of the three-dimensional acceleration spectrum and the meshing force shows that the variation in the meshing state and the fluctuation of the meshing force is the basic reasons for the variation in the system response with the torque load. In addition, the three rotors in the triple-gear-rotor system studied show a strong similarity in the meshing states and meshing force fluctuations, which result in the similarity in the dynamic responses of the three rotors.

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