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Alpha Thalassemia

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2. Expression and prognostic impact of alpha thalassemia/mental retardation X-linked and death domain-associated protein in human lung cancer. (PubMed)

Expression and prognostic impact of alpha thalassemia/mental retardation X-linked and death domain-associated protein in human lung cancer. Molecular characterization of lung cancer specimens after radical surgery offers additional prognostic information and may help to guide adjuvant therapeutic procedures. The transcriptional regulators alpha thalassemia/mental retardation X-linked (ATRX) and death domain-associated protein (DAXX) have recently been described in different cancer entities

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2019 Medicine

3. The Best Cutoff Value of Middle Cerebral Artery Peak Systolic Velocity for the Diagnosis of Fetal Homozygous Alpha Thalassemia-1 Disease. (PubMed)

The Best Cutoff Value of Middle Cerebral Artery Peak Systolic Velocity for the Diagnosis of Fetal Homozygous Alpha Thalassemia-1 Disease. To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease.Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18 to 22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count (...) . The performance of the MCA-PSV for identifying affected fetuses was evaluated using a best cutoff value derived from the receiver operating characteristic (ROC) curve.Among 142 fetuses at risk, 46 (32.4%) fetuses were diagnosed as affected by homozygous alpha thalassemia-1 disease and were categorized as mild anemia (16.3%), moderate anemia (58.1%), and severe anemia (25.6%). With the best cutoff point of MCA-PSV > 1.30 multiples of the median (MoM) or >30.0 cm/s, the sensitivity for predicting fetal

2019 Prenatal diagnosis

4. Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC. (PubMed)

Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC. Copyright © 2019, Ferrata Storti Foundation.

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2019 Haematologica

5. Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia (PubMed)

Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes (...) of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α⁺ thalassemia, 36 homozygous α⁺ thalassemia, 29 heterozygous α⁰ thalassemia and 8 cases of Hb H disease). A good correlation between the number of deleted alpha genes and MCV (r = -0.672, p < 0.001), MCH (r = -0.788, p < 0.001) and RDW (r = 0.633, p < 0.001) was observed. The presence of an α⁰ allele should

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2017 International journal of molecular sciences

6. Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6 (PubMed)

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6 The alpha-thalassemia/mental-retardation-syndrome-X-linked (ATRX) gene is located on the q arm of the X chromosome. ATRX gene mutations were first discovered in pancreatic neuroendocrine tumors, and subsequently in other cancer subtypes, including gliomas. Molecular subgrouping of gliomas has been more important than conventional histological classifications. Mutations in the isocitrate

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2018 Biochemistry and Biophysics Reports

7. An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on P. Vivax Parasitemia (PubMed)

An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on P. Vivax Parasitemia 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 (...) , -α3.7/-α4.2) but not in silent α-thalassemia (-α3.7/αα, -α4.2/αα, ααCS/αα) were significantly higher compared with non-α-thalassemia patients (p=0.027). HbE did not affect P. vivax parasitemia. The density of P. falciparum significantly increased in heterozygous HbE patients (p=0.046).Alpha-thalassemia trait is associated with high levels of P. vivax parasitemia in malaria patients in Southeast Asia.

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2018 Mediterranean journal of hematology and infectious diseases

8. Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential (PubMed)

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential Gliomas are the most common primary malignant brain tumor in humans. Lower grade gliomas are usually less aggressive but many cases eventually progress to a more aggressive secondary glioblastoma (GBM, WHO Grade IV), which has a universally fatal prognosis despite maximal surgical resection and concurrent chemo-radiation (...) . With the identification of molecular markers, however, there is promise for improving diagnostic and therapeutic strategies. One of the key molecular alterations in gliomas is the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, which is frequently mutated. One-third of pediatric GBM cases are also found to have the ATRX mutation and the genetic signatures are different from adult cases. The exact role of ATRX mutations in gliomagenesis, however, is unclear. In this review, we describe the normal

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2018 Frontiers in oncology

9. Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women. (PubMed)

Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women. This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs (...) were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. DNA-based diagnosis was performed using polymerase chain reaction (PCR) and flow-through hybridization technique. Follow-up visits were done half a year after the fetuses were born. Around 467 fetus at-risk pregnancies were performed prenatal diagnosis. We detected 88 CVS samples, 375 amniocentesis fluid samples and, 4 cord blood samples. The 356 fetuses in α-thalassemia families consisted

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2018 Medicine

10. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome (PubMed)

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of histone H3 and DNA methylation, while mutations in the ATRX gene may lead to the downstream epigenetic

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2017 Epigenetics & chromatin

11. A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood (PubMed)

A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried (...) about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks. Here we sought to develop capture probes and their companion analysis methods for the noninvasive prenatal detection of deletional and nondeletional thalassemia.Two families diagnosed as carriers of either beta-thalassemia gene or Southeast Asian deletional alpha-thalassemia gene mutation were recruited. The maternal plasma and amniotic fluid

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2017 Genetic testing and molecular biomarkers

12. Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China (PubMed)

Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China 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. Hypogonadism was found to be the most prominent endocrinal complications (84.0%) leading to the growth retardation, hypogonadism, diabetes mellitus, hypothyroidism and hypoparathyroidism whose incidence were significantly higher in pateints. (αCSα/-SEA) was the main genotype of Alpha

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2017 Scientific reports

13. A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report. (PubMed)

A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report. 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.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.This case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.

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2017 BMC Ophthalmology

14. Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? (PubMed)

Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease. We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman, carrier of the alpha-thalassemia trait (homozygous deletion of locus -3.7) combined with sickle cell trait. While the patient was included as healthy volunteer for a metabolic (...) study, we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction. Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0. The patient was treated with low-dose aspirin in secondary prevention afterwards. This case allows us to discuss cardiovascular risk among patients presenting with both alpha-thalassemia trait and sickle cell trait and the indication of cardiac imagery in such patients even when

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2017 World journal of clinical cases

15. Fetal isovolumetric time intervals as a marker of abnormal cardiac function in fetal anemia from homozygous alpha thalassemia-1 disease. (PubMed)

Fetal isovolumetric time intervals as a marker of abnormal cardiac function in fetal anemia from homozygous alpha thalassemia-1 disease. To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1.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. Time intervals were compared between the affected group of homozygous alpha thalassemia-1 fetuses and the unaffected group.Among 70 fetuses at risk, 28 cases were diagnosed as affected by homozygous alpha thalassemia-1 disease. Mean ICT and ICT + IRT intervals in the affected group were significantly longer than in the unaffected group (47.9 ± 12.5 ms

2017 Prenatal diagnosis

16. Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. (PubMed)

Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. We conducted an inventory of state-based recommendations for follow-up of alpha thalassemia silent carrier and trait identified on newborn screen. We found wide variability in the nature and timing of these recommendations. We recommend a standardized recommendation to guide pediatricians in evidenced-based care for this population.Copyright © 2017 Elsevier Inc

2017 Journal of Pediatrics

17. Alpha Thalassemia

Alpha Thalassemia Alpha Thalassemia Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Alpha Thalassemia Alpha Thalassemia Aka: Alpha (...) Thalassemia From Related Chapters II. Epidemiology: Ethnicity African descent (2% ) Asian patients ( common) III. Pathophysiology See trait affecting two genes on each of the two 16 Results in decrease of absence of lpha chains and excess of beta chains IV. Types Asymptomatic Alpha Thalassemia Silent Carrier 16 gene deletions: 1 of 4 Alpha Thalassemia Trait (Alpha Thalassemia Minor) 16 gene deletions: 2 of 4 shows microcytosis without Mild symptoms Constant Spring Reduced alpha globin output Moderate

2018 FP Notebook

18. Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia. (PubMed)

Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia. β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by an absent or reduced beta globin chain synthesis. The unbalance of alpha-gamma chain and the presence of pathological free iron promote severe oxidative damage, playing crucial a role in erythrocyte hemolysis, exacerbating ineffective erythropoiesis and decreasing the lifespan of red (...) promotes the molecular chaperone activity of these proteins. Some studies have demonstrated the importance of Prdx1 and Prdx2 for the development and maintenance of erythrocytes in hemolytic anemia. Now, we performed a global analysis comparatively evaluating the expression profile of several antioxidant enzymes and their physiological reducing agents in patients with beta thalassemia intermedia (BTI) and healthy individuals. Furthermore, increased levels of ROS were observed not only in RBC, but also

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2018 PLoS ONE

19. Thalassemia review: features, dental considerations and management (PubMed)

Thalassemia review: features, dental considerations and management Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get (...) treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis. Any dental surgical procedure for such patients should be done under antibiotic cover and immediately after transfusion. Caution should be exercised in thalassemia patients due to complications related to compromised immunity and cardiovascular issues. Multidisciplinary approach involving dental surgeon

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2017 Electronic physician

20. Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts (PubMed)

Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts 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

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2017 Blood advances

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