162 results found
Layton D, Piel F, Telfer P, 2020, Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients, Haematologica: the hematology journal, Vol: 105, Pages: 2651-2654, ISSN: 0390-6078
Roy NBA, Telfer P, Eleftheriou P, et al., 2020, Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic, British Journal of Haematology, Vol: 189, Pages: 635-639, ISSN: 0007-1048
With the developing COVID‐19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on the care of patients with sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic anaemia (CDA), sideroblastic anaemia, pyruvate kinase deficiency and other red cell enzyme and membrane disorders. Cascading of accurate information for clinicians and patients is paramount to preventing adverse outcomes, such as patients who are at increased risk of fulminant bacterial infection due to their condition or its treatment erroneously self‐isolating if their fever is mistakenly attributed to a viral cause, delaying potentially life‐saving antibiotic therapy. Outpatient visits should be minimised for most patients, however some, such as first transcranial dopplers for children with sickle cell anaemia should not be delayed as known risk of stroke will outweigh the unknown risk from COVID‐19 infection. Blood transfusion programmes should be continued, but specific changes to usual clinical pathways can be instituted to reduce risk of patient exposure to COVID‐19, as well as contingency planning for possible reductions in blood available for transfusions. Bone marrow transplants for these disorders should be postponed until further notice. With the current lack of evidence on the risk and complications of COVID‐19 infection in these patients, national data collection is ongoing to record outcomes and eventually to identify predictors of disease severity, particularly important if further waves of infection travel through the population.
Hui YMT, Gurung K, Mkandawire C, et al., 2020, Audit of red cell genotyping in sickle cell disease patients in two London trusts, 60th Annual Scientific Meeting of the British-Society-for-Haematology (BSH), Publisher: WILEY, Pages: 175-175, ISSN: 0007-1048
Rio-Machin A, Vulliamy T, Hug N, et al., 2020, The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants, Nature Communications, Vol: 11, Pages: 1-12, ISSN: 2041-1723
The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17RA, PRF1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure series (DNAH9, NAPRT1 and SH2B3) or variants at novel loci (DHX34) that appear specific to inherited forms of myeloid malignancies. Altogether, our series of MDS/AML families offer novel insights into the etiology of myeloid malignancies and provide a framework to prioritize variants for inclusion into routine diagnostics and patient management.
Roper D, Layton M, Rees D, et al., 2020, Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 189, Pages: 24-38, ISSN: 0007-1048
Grace RF, Rose C, Layton DM, et al., 2019, Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 381, Pages: 933-944, ISSN: 0028-4793
Bianchi P, Glader B, Grace R, et al., 2019, PEAK REGISTRY: A GLOBAL LONGITUDINAL OBSERVATIONAL STUDY OF PATIENTS WITH PYRUVATE KINASE DEFICIENCY, Publisher: WILEY, ISSN: 1545-5009
Shabbir S, Al-Abdulla A, Kinderlerer A, et al., 2019, OFF-LICENCE USE OF ANAKINRA IN CRITICALLY ILL ADULTS WITH SUSPECTED HAEMOPHAGOCYTOSIS - A SINGLE CENTRE EXPERIENCE, Annual European Congress of Rheumatology (EULAR), Publisher: BMJ PUBLISHING GROUP, Pages: 292-293, ISSN: 0003-4967
Grace RF, Layton DM, Barcellini W, 2019, How we manage patients with pyruvate kinase deficiency (vol 184, pg 721, 2019), BRITISH JOURNAL OF HAEMATOLOGY, Vol: 185, Pages: 807-807, ISSN: 0007-1048
Howard J, Hemmaway CJ, Telfer P, et al., 2019, A phase 1/2 ascending dose study and open-label extension study of voxelotor in patients with sickle cell disease, BLOOD, Vol: 133, Pages: 1865-1875, ISSN: 0006-4971
Hutchinson M, Sohal M, Layton M, et al., 2019, STEROID-FREE MANAGEMENT OF LIFE-THREATENING HAEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN THE CONTEXT OF SUSPECTED LYMPHOPROLIFERATIVE DISEASE AND INFECTION, Annual Conference of the British-Soceity-for-Rheumatology, Publisher: OXFORD UNIV PRESS, ISSN: 1462-0324
Thielemans L, Layton DM, Shovlin CL, 2019, Low serum haptoglobin and blood films suggest intravascular haemolysis contributes to severe anaemia in hereditary haemorrhagic telangiectasia, Haematologica, Vol: 104, Pages: e127-e130, ISSN: 0390-6078
Brierley C, Babbs C, McGowan S, et al., 2019, Whole genome sequencing for the investigation of rare anaemias: Challenges and real-world outcomes, 59th Annual Scientific Meeting of the British-Society-for-Hematology, Publisher: WILEY, Pages: 115-116, ISSN: 0007-1048
Grace RF, Layton DM, Barcellini W, 2019, How we manage patients with pyruvate kinase deficiency, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 184, Pages: 721-734, ISSN: 0007-1048
Vora SM, Proven M, Hipkiss R, et al., 2019, Glucophosphate isomerase deficiency identified by next-generation sequencing, 59th Annual Scientific Meeting of the British-Society-for-Hematology, Publisher: WILEY, Pages: 118-118, ISSN: 0007-1048
Thielemans L, Layton M, Shovlin CL, 2018, EVIDENCE OF HAEMOLYSIS IN PATIENTS WITH PULMONARY AVMS AND HEREDITARY HAEMORRHAGIC TELANGIECTASIA, Winter Meeting of the British-Thoracic-Society, Publisher: BMJ PUBLISHING GROUP, Pages: A102-A103, ISSN: 0040-6376
Lucchini E, Luqmani A, Atta M, et al., 2018, Autoimmune Cytopenias Following Alemtuzumab-Induced Renal Transplant: Clinical Features and Treatment Outcomes, 60th Annual Meeting of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Farmery JHR, Smith ML, Lynch AG, et al., 2018, Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data, Scientific Reports, Vol: 8, ISSN: 2045-2322
Correction to: Scientific Reports https://doi.org/10.1038/s41598-017-14403-y, published online 22 January 2018The original version of this Article contained a typographical error in the spelling of the consortium member Patrick Yu-Wai-Man which was incorrectly given as Patrick Yu Wai Man.In addition, a supplementary file containing additional algorithms and analysis was omitted from the original version of this Article.These errors have now been corrected in the HTML and PDF versions of the Article.
Griffin M, Neilly I, Nikolousis M, et al., 2018, Lessons learned from a review of paroxysmal nocturnal haemoglobinuria (PNH) requests: a report from the UK PNH Network, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 182, Pages: 930-933, ISSN: 0007-1048
Spencer-Chapman M, Luqmani A, Layton DM, et al., 2018, Unusual inclusions in hemoglobin H disease post-splenectomy, AMERICAN JOURNAL OF HEMATOLOGY, Vol: 93, Pages: 963-964, ISSN: 0361-8609
Stotesbury H, Kirkham FJ, Kolbel M, et al., 2018, White matter integrity and processing speed in sickle cell anemia, NEUROLOGY, Vol: 90, Pages: E2042-E2050, ISSN: 0028-3878
Deplano S, Atta M, Luqmani A, et al., 2018, Immune thrombocytopenia in the elderly: a single centre experience., 58th Annual Scientific Meeting of the British-Society-for-Haematology, Publisher: WILEY, Pages: 51-51, ISSN: 0007-1048
Grace RF, Layton DM, Galacteros F, et al., 2017, Results Update from the DRIVE PK Study: Effects of AG-348, a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency, 59th Annual Meeting of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Shovlin CL, Boother EJ, Fung CH, et al., 2017, PULMONARY ARTERIOVENOUS MALFORMATIONS, HEREDITARY HAEMORRHAGIC TELANGIECTASIA AND IRON TREATMENTS, Winter Meeting of the British-Thoracic-Society, Publisher: BMJ PUBLISHING GROUP, Pages: A180-A180, ISSN: 0040-6376
Grace RF, Layton DM, Galacteros F, et al., 2017, EFFECTS OF AG-348, A PYRUVATE KINASE ACTIVATOR, IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY: UPDATED RESULTS FROM THE DRIVE PK STUDY, 22nd Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 164-164, ISSN: 0390-6078
Lehrer-Graiwer J, Howard J, Hemmaway CJ, et al., 2016, Long-Term Dosing in Sickle Cell Disease Subjects with GBT440, a Novel HbS Polymerization Inhibitor, 58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Grace RF, Rose C, Layton DM, et al., 2016, Effects of AG-348, a Pyruvate Kinase Activator, on Anemia and Hemolysis in Patients with Pyruvate Kinase Deficiency: Data from the DRIVE PK Study, 58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
Shovlin CL, Hughes JMB, Layton M, et al., 2016, LONG TERM OUTCOMES FOR PATIENTS WITH PULMONARY ARTERIOVENOUS MALFORMATIONS CONSIDERED FOR LUNG TRANSPLANTATION, British Thoracic Society Winter Meeting 2016, Publisher: BMJ PUBLISHING GROUP, Pages: A101-A101, ISSN: 0040-6376
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