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  1. Article ; Online: Iron overload in inherited anaemias: why one size can't fit all.

    Roy, Noémi B A

    British journal of haematology

    2021  Volume 196, Issue 2, Page(s) 266–267

    MeSH term(s) Anemia ; Humans ; Iron Chelating Agents ; Iron Overload/genetics
    Chemical Substances Iron Chelating Agents
    Language English
    Publishing date 2021-10-27
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.17905
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  2. Article ; Online: Medical science must address health disparities amongst different ethnic groups.

    Igbineweka, Norris E / Tshuma, Nomathamsanqa / Roy, Noémi B A

    Nature human behaviour

    2021  Volume 5, Issue 12, Page(s) 1595–1597

    MeSH term(s) Ethnicity ; Health Status Disparities ; Healthcare Disparities ; Humans ; Social Media ; Socioeconomic Factors
    Language English
    Publishing date 2021-11-22
    Publishing country England
    Document type Journal Article
    ISSN 2397-3374
    ISSN (online) 2397-3374
    DOI 10.1038/s41562-021-01240-3
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  3. Article ; Online: The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

    Roy, Noémi B A / Babbs, Christian

    British journal of haematology

    2019  Volume 185, Issue 3, Page(s) 436–449

    Abstract: Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA-I is caused by bi-allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative ... ...

    Abstract Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA-I is caused by bi-allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA-I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA-I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA-I is presented, highlighting critical questions likely to lead to improved therapy for this disease.
    MeSH term(s) Alleles ; Anemia, Dyserythropoietic, Congenital/diagnosis ; Anemia, Dyserythropoietic, Congenital/genetics ; Anemia, Dyserythropoietic, Congenital/metabolism ; Anemia, Dyserythropoietic, Congenital/therapy ; Genetic Testing ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Humans ; Interferon-alpha/therapeutic use ; Iron Overload/diagnosis ; Iron Overload/genetics ; Iron Overload/metabolism ; Iron Overload/prevention & control ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism
    Chemical Substances CDAN1 protein, human ; Glycoproteins ; Interferon-alpha ; Nuclear Proteins
    Language English
    Publishing date 2019-03-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.15817
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  4. Article ; Online: Expanded eligibility for emerging therapies in sickle cell disease in the UK - crizanlizumab and voxelotor.

    Vora, Sona M / Boyd, Stephen / Denny, Nicholas / Jackson, Elizabeth / Roy, Noemi B A / Howard, Jo / Lugthart, Sanne

    British journal of haematology

    2022  Volume 197, Issue 4, Page(s) 502–504

    MeSH term(s) Anemia, Sickle Cell/drug therapy ; Antibodies, Monoclonal, Humanized ; Benzaldehydes ; Humans ; Pyrazines ; Pyrazoles ; United Kingdom/epidemiology
    Chemical Substances Antibodies, Monoclonal, Humanized ; Benzaldehydes ; Pyrazines ; Pyrazoles ; voxelotor (3ZO554A4Q8) ; crizanlizumab (L7451S9126)
    Language English
    Publishing date 2022-02-21
    Publishing country England
    Document type Letter
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.18059
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  5. Article ; Online: Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline.

    Bain, Barbara J / Daniel, Yvonne / Henthorn, Joan / de la Salle, Barbara / Hogan, Amanda / Roy, Noémi B A / Mooney, Ciaran / Langabeer, Lisa / Rees, David C

    British journal of haematology

    2023  Volume 201, Issue 6, Page(s) 1047–1065

    Abstract: Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow-up testing and referral, ... ...

    Abstract Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow-up testing and referral, should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening Programme. All babies under 1 year of age arriving in the United Kingdom should be offered screening for sickle cell disease (SCD). Preoperative screening for SCD should be carried out in patients from ethnic groups in which there is a significant prevalence of the condition. Emergency screening with a sickle solubility test must always be followed by definitive analysis. Laboratories performing antenatal screening should utilise methods that are capable of detecting significant variants and are capable of quantitating haemoglobins A
    MeSH term(s) Infant, Newborn ; Female ; Humans ; Pregnancy ; State Medicine ; Hemoglobinopathies/diagnosis ; Anemia, Sickle Cell/diagnosis ; Anemia, Sickle Cell/epidemiology ; Neonatal Screening/methods ; Thalassemia/diagnosis ; Hematology
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.18794
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  6. Article ; Online: Unexpected haemophilia despite pre-natal testing - a combined haemophilia A and haemophilia B family.

    Roy, Noémi B A / Curry, Nicola / Keeling, David

    British journal of haematology

    2017  Volume 179, Issue 2, Page(s) 182

    Language English
    Publishing date 2017-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.14840
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  7. Article ; Online: Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.

    Iskander, Deena / Roy, Noémi B A / Payne, Elspeth / Drasar, Emma / Hennessy, Kelly / Harrington, Yvonne / Christodoulidou, Chrysi / Karadimitris, Anastasios / Batkin, Leisa / de la Fuente, Josu

    Blood reviews

    2023  Volume 61, Page(s) 101097

    Abstract: Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome, usually caused by loss-of function variants in genes encoding ribosomal proteins. The hallmarks of DBA are anemia, congenital anomalies and cancer predisposition. Although DBA usually ... ...

    Abstract Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome, usually caused by loss-of function variants in genes encoding ribosomal proteins. The hallmarks of DBA are anemia, congenital anomalies and cancer predisposition. Although DBA usually presents in childhood, the prevalence in later life is increasing due to an expanding repertoire of implicated genes, improvements in genetic diagnosis and increasing life expectancy. Adult patients uniquely suffer the manifestations of end-organ damage caused by the disease and its treatment, and transition to adulthood poses specific issues in disease management. To standardize and optimize care for this rare disease, in this review we provide updated guidance on the diagnosis and management of DBA, with a specific focus on older adolescents and adults. Recommendations are based upon published literature and our pooled clinical experience from three centres in the United Kingdom (U·K.). Uniquely we have also solicited and incorporated the views of affected families, represented by the independent patient organization, DBA U.K.
    MeSH term(s) Adolescent ; Humans ; Adult ; Anemia, Diamond-Blackfan/diagnosis ; Anemia, Diamond-Blackfan/epidemiology ; Anemia, Diamond-Blackfan/genetics ; Rare Diseases ; Ribosomal Proteins/genetics ; Neoplasms ; Disease Susceptibility ; Mutation
    Chemical Substances Ribosomal Proteins
    Language English
    Publishing date 2023-05-08
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2023.101097
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  8. Article ; Online: Direct correction of haemoglobin E β-thalassaemia using base editors.

    Badat, Mohsin / Ejaz, Ayesha / Hua, Peng / Rice, Siobhan / Zhang, Weijiao / Hentges, Lance D / Fisher, Christopher A / Denny, Nicholas / Schwessinger, Ron / Yasara, Nirmani / Roy, Noemi B A / Issa, Fadi / Roy, Andi / Telfer, Paul / Hughes, Jim / Mettananda, Sachith / Higgs, Douglas R / Davies, James O J

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 2238

    Abstract: Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG; glutamatic ... ...

    Abstract Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG; glutamatic acid → AAG; lysine, E26K), and any mutation causing severe β-thalassaemia on the other. When inherited together in compound heterozygosity these mutations can cause a severe thalassaemic phenotype. However, if only one allele is mutated individuals are carriers for the respective mutation and have an asymptomatic phenotype (β-thalassaemia trait). Here we describe a base editing strategy which corrects the HbE mutation either to wildtype (WT) or a normal variant haemoglobin (E26G) known as Hb Aubenas and thereby recreates the asymptomatic trait phenotype. We have achieved editing efficiencies in excess of 90% in primary human CD34 + cells. We demonstrate editing of long-term repopulating haematopoietic stem cells (LT-HSCs) using serial xenotransplantation in NSG mice. We have profiled the off-target effects using a combination of circularization for in vitro reporting of cleavage effects by sequencing (CIRCLE-seq) and deep targeted capture and have developed machine-learning based methods to predict functional effects of candidate off-target mutations.
    MeSH term(s) Humans ; Animals ; Mice ; beta-Thalassemia/genetics ; Hemoglobin E/genetics ; Thalassemia/genetics ; Mutation ; Point Mutation
    Chemical Substances Hemoglobin E (9034-61-1)
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-37604-8
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  9. Article ; Online: Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.

    Scott, Caroline / Bartolovic, Kerol / Clark, Sally-Ann / Waithe, Dominic / Hill, Quentin A / Okoli, Steven / Renella, Raffaele / Ryan, Kate / Cahill, Mary R / Higgs, Douglas R / Roy, Noémi B A / Buckle, Veronica / Roberts, Irene / Babbs, Christian

    British journal of haematology

    2022  Volume 198, Issue 1, Page(s) e10–e14

    MeSH term(s) Anemia, Dyserythropoietic, Congenital ; Erythropoiesis ; Humans
    Language English
    Publishing date 2022-04-13
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.18167
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  10. Article ; Online: RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

    Martell, Danya J / Merens, Hope E / Caulier, Alexis / Fiorini, Claudia / Ulirsch, Jacob C / Ietswaart, Robert / Choquet, Karine / Graziadei, Giovanna / Brancaleoni, Valentina / Cappellini, Maria Domenica / Scott, Caroline / Roberts, Nigel / Proven, Melanie / Roy, Noémi B A / Babbs, Christian / Higgs, Douglas R / Sankaran, Vijay G / Churchman, L Stirling

    Developmental cell

    2023  Volume 58, Issue 20, Page(s) 2112–2127.e4

    Abstract: Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified ... ...

    Abstract Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified heterozygous loss-of-function mutations in SUPT5H, which encodes SPT5, in individuals with β-thalassemia. During erythropoiesis in healthy human cells, cell cycle genes were highly paused as cells transition from progenitors to precursors. When the pathogenic mutations were recapitulated by SUPT5H editing, RNA Pol II pause release was globally disrupted, and as cells began transitioning from progenitors to precursors, differentiation was delayed, accompanied by a transient lag in erythroid-specific gene expression and cell cycle kinetics. Despite this delay, cells terminally differentiate, and cell cycle phase distributions normalize. Therefore, hindering pause release perturbs proliferation and differentiation dynamics at a key transition during erythropoiesis, identifying a role for RNA Pol II pausing in temporally coordinating the cell cycle and erythroid differentiation.
    MeSH term(s) Humans ; RNA Polymerase II/genetics ; RNA Polymerase II/metabolism ; Gene Expression Regulation ; Cell Differentiation ; Cell Cycle ; Transcription, Genetic ; Nuclear Proteins/metabolism ; Transcriptional Elongation Factors/genetics
    Chemical Substances RNA Polymerase II (EC 2.7.7.-) ; SUPT5H protein, human ; Nuclear Proteins ; Transcriptional Elongation Factors
    Language English
    Publishing date 2023-08-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2054967-2
    ISSN 1878-1551 ; 1534-5807
    ISSN (online) 1878-1551
    ISSN 1534-5807
    DOI 10.1016/j.devcel.2023.07.018
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