Publications
204 results found
Adissu W, Brito M, Garbin E, et al., 2023, Clinical performance validation of the STANDARD G6PD test: A multi-country pooled analysis., PLoS Negl Trop Dis, Vol: 17
INTRODUCTION: Screening for G6PD deficiency can inform disease management including malaria. Treatment with the antimalarial drugs primaquine and tafenoquine can be guided by point-of-care testing for G6PD deficiency. METHODS AND FINDINGS: Data from similar clinical studies evaluating the performance of the STANDARD G6PD Test (SD Biosensor, South Korea) conducted in Bangladesh, Brazil, Ethiopia, India, Thailand, the United Kingdom, and the United States were pooled. Test performance was assessed in a retrospective analysis on capillary and venous specimens. All study sites used spectrophotometry for reference G6PD testing, and either the HemoCue or complete blood count for reference hemoglobin measurement. The sensitivity of the STANDARD G6PD Test using the manufacturer thresholds for G6PD deficient and intermediate cases in capillary specimens from 4212 study participants was 100% (95% Confidence Interval (CI): 97.5%-100%) for G6PD deficient cases with <30% activity and 77% (95% CI 66.8%-85.4%) for females with intermediate activity between 30%-70%. Specificity was 98.1% (95% CI 97.6%-98.5%) and 92.8% (95% CI 91.6%-93.9%) for G6PD deficient individuals and intermediate females, respectively. Out of 20 G6PD intermediate females with false normal results, 12 had activity levels >60% on the reference assay. The negative predictive value for females with G6PD activity >60% was 99.6% (95% CI 99.1%-99.8%) on capillary specimens. Sensitivity among 396 P. vivax malaria cases was 100% (69.2%-100.0%) for both deficient and intermediate cases. Across the full dataset, 37% of those classified as G6PD deficient or intermediate resulted from true normal cases. Despite this, over 95% of cases would receive correct treatment with primaquine, over 87% of cases would receive correct treatment with tafenoquine, and no true G6PD deficient cases would be treated inappropriately based on the result of the STANDARD G6PD Test. CONCLUSIONS: The STANDARD G6PD Test enables safe acce
Bain BJ, Hann A, Layton DM, 2023, Putting unstable hemoglobins on the map of London, American Journal of Hematology, Vol: 98, Pages: 1488-1489, ISSN: 0361-8609
Hinton R, Haji R, Kaczmarski R, et al., 2023, Hyperhaemolysis caused by anti-HI antibodies in a patient with myelodysplastic syndrome following a first ever red cell transfusion, TRANSFUSION MEDICINE, Vol: 33, Pages: 349-351, ISSN: 0958-7578
Clayden JD, Stotesbury H, Kawadler JM, et al., 2023, Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia, BLOOD ADVANCES, Vol: 7, Pages: 2297-2308, ISSN: 2473-9529
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- Citations: 2
Al-Samkari H, Grace RF, Glenthoj A, et al., 2023, Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency, AMERICAN JOURNAL OF HEMATOLOGY, Vol: 98, Pages: E57-E60, ISSN: 0361-8609
Grace RF, van Beers EJ, Corrons J-LV, et al., 2023, The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design, BMJ OPEN, Vol: 13, ISSN: 2044-6055
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- Citations: 1
Grace RF, Glenthoj A, Barcellini W, et al., 2022, Long-Term Hemoglobin Response and Reduction in Transfusion Burden Are Maintained in Patients with Pyruvate Kinase Deficiency Treated with Mitapivat, 64th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, Pages: 5313-5315, ISSN: 0006-4971
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- Citations: 1
Lander C, Grace RF, van Beers EJ, et al., 2022, The Launch of Two Sub-Studies of the Peak Registry, a Global, Longitudinal Study of Pyruvate Kinase Deficiency, 64th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, Pages: 11041-11042, ISSN: 0006-4971
Kuo KHM, Layton DM, Lal A, et al., 2022, Mitapivat Improves Markers of Erythropoietic Activity in Long-Term Study of Adults with Alpha- or Beta-Non-Transfusion-Dependent Thalassemia, 64th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, Pages: 2431-2432, ISSN: 0006-4971
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- Citations: 1
Grace RF, Glenthoj A, Barcellini W, et al., 2022, Sustained effect on hemoglobin levels and reduced transfusion burden maintained in patients with pyruvate kinase deficiency on mitapivat in a long-term extension study, Publisher: KARGER, Pages: 138-139, ISSN: 2296-5270
Kuo KHM, Layton DM, Lal A, et al., 2022, Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in adults with non-transfusion dependent α-thalassaemia or β-thalassaemia: an open-label, multicentre, phase 2 study, LANCET, Vol: 400, Pages: 493-501, ISSN: 0140-6736
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- Citations: 21
Joyce KE, Onabanjo E, Brownlow S, et al., 2022, Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants, Blood Advances, Vol: 6, Pages: 3956-3969, ISSN: 2473-9529
The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often cause severe anemia due to recurrent hemorrhage, but HHT-causal genes do not predict the severity of hematological complications. We tested for chance inheritance and clinical associations of rare deleterious variants where loss-of-function causes bleeding or hemolytic disorders in the general population. In double-blinded analyses, all 104 HHT patients from a single reference centre recruited to the 100,000 Genomes Project were categorised on new MALO (more/as-expected/less/opposite) sub-phenotype severity scales, and whole genome sequencing data tested for high impact variants in 75 HHT-independent genes encoding coagulation factors, platelet, hemoglobin, erythrocyte enzyme and erythrocyte membrane constituents. Rare variants (all GnomAD allele frequencies <0.003) were identified in 56 (75%) of these 75 HHT-unrelated genes, and in 38/104 (36.5%) of the HHT patients. Likely deleteriousness assignments by Combined Annotation Dependent Depletion (CADD) scores >15 were supported by gene-level mutation significance cutoff (MSC) scores. CADD>15 variants were found for 1 in 10 patients within platelet genes; 1 in 8 within coagulation genes; and 1 in 4 within erythrocyte hemolytic genes. In blinded analyses, patients with greater hemorrhagic severity that had been attributed solely to HHT vessels had more CADD-deleterious variants in platelet (Spearman ρ=0.25, p=0.008) and coagulation (Spearman ρ=0.21, p=0.024) genes. However, the HHT cohort had 60% fewer deleterious variants in platelet and coagulation genes than expected (Mann Whitney p=0.021). In conclusion, HHT patients commonly have rare variants in genes of relevance to their phenotype, offering new therapeutic targets and opportunities for informed, personalised medicine strategies.
Stotesbury H, Kawadler JM, Clayden JD, et al., 2022, Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia, FRONTIERS IN NEUROLOGY, Vol: 13, ISSN: 1664-2295
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- Citations: 6
Bain BJ, Myburgh J, Hann A, et al., 2022, Voxelotor in sickle cell disease, American Journal of Hematology, Vol: 97, Pages: 830-832, ISSN: 0361-8609
Roy NBA, Da Costa L, Russo R, et al., 2022, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper., Hemasphere, Vol: 6
Roy NBA, Da Costa L, Russo R, et al., 2022, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper, HEMASPHERE, Vol: 6, Pages: 459-477, ISSN: 0007-1048
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- Citations: 4
Stotesbury H, Hales PW, Koelbel M, et al., 2022, Venous cerebral blood flow quantification and cognition in patients with sickle cell anemia, JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, Vol: 42, Pages: 1061-1077, ISSN: 0271-678X
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- Citations: 7
Hui YMT, Gurung K, Layton DM, et al., 2022, Sickle cell disease patients in two London trusts: Genotyping including <i>RH</i> variants, TRANSFUSION MEDICINE, Vol: 32, Pages: 210-220, ISSN: 0958-7578
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- Citations: 2
Stotesbury H, Hales PW, Hood AM, et al., 2022, Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study, FRONTIERS IN PHYSIOLOGY, Vol: 13
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- Citations: 7
Al-Samkari H, Galacteros F, Glenthoj A, et al., 2022, Mitapivat versus Placebo for Pyruvate Kinase Deficiency, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 386, Pages: 1432-1442, ISSN: 0028-4793
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- Citations: 27
Collington SJ, Nawaz A, Walder S, et al., 2022, Retrospective analysis of the burden of vaso-occlusive events experienced by sickle cell disease (SCD) patients in the integrated health and social care system in North West London, Publisher: WILEY, Pages: 130-131, ISSN: 0007-1048
Dexter D, Layton DM, Kiritkumar K, et al., 2022, Peripheral blood features of iron overload in post-splenectomy, type I congenital dyserythropoietic anemia, American Journal of Hematology, Vol: 97, Pages: 237-238, ISSN: 0361-8609
HannyAl-Samkari, Grace RF, Glenthoej A, et al., 2021, Bone Mineral Density Remains Stable in Pyruvate Kinase Deficiency Patients Receiving Long-Term Treatment with Mitapivat, 63rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Kuo KHM, Layton DM, Lal A, et al., 2021, Long-Term Efficacy and Safety of the Oral Pyruvate Kinase Activator Mitapivat in Adults with Non-Transfusion-Dependent Alpha- or Beta-Thalassemia, 63rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
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- Citations: 1
Bianchi P, Grace RF, Vives Corrons J-L, et al., 2021, Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency - a Descriptive Analysis from the Peak Registry, 63rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Grace RF, Glenthoej A, Barcellini W, et al., 2021, Durability of Hemoglobin Response and Reduction in Transfusion Burden Is Maintained over Time in Patients with Pyruvate Kinase Deficiency Treated with Mitapivat in a Long-Term Extension Study, 63rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
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- Citations: 1
Al-Samkari H, Galacteros F, Glenthoj A, et al., 2021, ACTIVATE: A PHASE 3, RANDOMIZED, MULTICENTER, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY OF MITAPIVAT IN ADULTS WITH PYRUVATE KINASE DEFICIENCY WHO ARE NOT REGULARLY TRANSFUSED, Publisher: FERRATA STORTI FOUNDATION, Pages: 106-106, ISSN: 0390-6078
Bianchi P, van Beers EJ, Vives Corrons J-L, et al., 2021, BASELINE CHARACTERISTICS BY AGE OF A GLOBAL COHORT OF PATIENTS DIAGNOSED WITH PYRUVATE KINASE DEFICIENCY - A DESCRIPTIVE ANALYSIS FROM THE PEAK REGISTRY, Publisher: FERRATA STORTI FOUNDATION, Pages: 107-108, ISSN: 0390-6078
Al-Samkari H, Grace RF, Glenthoj A, et al., 2021, EARLY-ONSET OSTEOPENIA AND OSTEOPOROSIS IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY, Publisher: FERRATA STORTI FOUNDATION, Pages: 108-108, ISSN: 0390-6078
Cappellini M, Kuo KHM, Layton DM, et al., 2021, ENERGIZE AND ENERGIZE-T: TWO PHASE 3, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDIES OF MITAPIVAT IN ADULTS WITH NON-TRANSFUSION-DEPENDENT OR TRANSFUSION-DEPENDENT ALPHA- OR BETA-THALASSEMIA, Publisher: FERRATA STORTI FOUNDATION, Pages: 110-111, ISSN: 0390-6078
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