Review
Hematology
David C. Rees, Valentine A. M. Brousse, John N. Brewin
Summary: Sickle cell disease is a highly variable condition, with outcomes ranging from childhood death to relatively symptom-free living. The co-inheritance of alpha thalassemia and factors determining HbF levels significantly influence the phenotype, but few other significant genetic variants have been identified. Environmental factors, including socioeconomic status and access to medical care, play a significant role in determining outcomes. Exposure to cold and windy weather seems to trigger acute complications in many individuals, although the effects are unpredictable and vary with geography. Several studies have attempted to identify prognostic factors for predicting outcomes, particularly in infancy. Low hemoglobin, low hemoglobin F percentage, and high reticulocytes in childhood are associated with worse outcomes, but these effects are relatively weak and inconsistent.
Review
Medicine, General & Internal
Justin K. Kirkham, Jeremie H. Estepp, Mitch J. Weiss, Sara R. Rashkin
Summary: This study aims to assess all reported genetic modifiers of SCD, evaluate the design of associated studies, and provide guidelines for future analyses. The findings highlighted the importance of standardized phenotypes, statistical methods, and reporting practices in accelerating the discovery of genetic modifiers and development of clinically actionable genetic profiles for SCD.
Article
Hematology
Thomas d'Humieres, Joseph Saba, Laurent Savale, Marie Dupuy, Laurent Boyer, Henri Guillet, Lara Alassaad, Gonzalo de Luna, Sihem Iles, Anne L. Pham Hung d'Alexandry d'Orengiani, Yosr Zaouali, Nouhaila Boukour, Yanis Pelinski, Laurent Messonier, Etienne Audureau, Haytham Derbel, Anoosha Habibi, Nicolas Lellouche, Genevieve Derumeaux, Pablo Bartolucci
Summary: Sudden death is a major cause of mortality in adults with sickle cell anemia, but its etiology is largely unknown. This study aimed to determine the prevalence and predictors of ventricular arrhythmia in patients with sickle cell anemia. The results showed that ventricular arrhythmia is common in patients with sickle cell anemia, especially in men, and impaired global longitudinal strain is a valuable parameter for predicting rhythmic risk.
Article
Respiratory System
Brittany Salter, Nan Zhao, Kiho Son, Nadia Suray Tan, Anna Dvorkin-Gheva, Katherine Radford, Nicola LaVigne, Chynna Huang, Melanie Kjarsgaard, Quan-Zhen Li, Konstantinos Tselios, Hui Fang Lim, Nader Khalidi, Parameswaran Nair, Manali Mukherjee
Summary: This study found that 55% of moderate-severe asthmatic patients have persistent airway autoimmunity that is not affected by anti-inflammatory treatment and is associated with exacerbations.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Review
Oncology
Babak Sayad, Mehran Karimi, Zohreh Rahimi
Summary: Studies suggest that COVID-19 presentation in SCD patients varies with age, with children showing milder symptoms and older individuals more likely to experience severe outcomes. Pediatric intensive care unit admission rates should be carefully considered when managing SCD patients, given the potential for higher rates among this population.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Biochemistry & Molecular Biology
Michael Hecker, Jan Buehring, Brit Fitzner, Paulus Stefan Rommer, Uwe Klaus Zettl
Summary: Telomeres, protective structures at the ends of chromosomes, are linked to biological aging and disorders like MS. Genetic, environmental, and lifestyle factors influence telomere length and MS susceptibility, with early-life factors like obesity, inactivity, smoking, and vitamin D deficiency associated with reduced TL and higher MS risk. Further research is needed to understand the role of telomeres in disease processes and potential interventions in MS.
Review
Medicine, Research & Experimental
Kristine A. Karkoska, Jahnavi Gollamudi, Hyacinth Hyacinth
Summary: Sickle cell disease (SCD) is a genetic blood disorder that causes red blood cells to become misshapen and break down, leading to chronic anemia. It affects millions of people worldwide, mainly in Sub-Saharan Africa and the Indian subcontinent. SCD can cause vaso-occlusion, affecting nearly every organ system and causing significant morbidity and early mortality. The neurological complications of SCD are particularly devastating and diverse, ranging from stroke to silent cerebral infarctions. This review examines the biological and socioenviromental contributors to SCD-related neurological complications, and discusses current treatment options and experimental therapies.
EXPERIMENTAL BIOLOGY AND MEDICINE
(2023)
Article
Genetics & Heredity
Chide Emmanuel Okocha, Patrick O. Manafa, Chioma Nkechinyere Igwe, Uchechukwu Prince Okite, Christian Ejike Onah, Chilota Efobi
Summary: The study evaluated the status of adiponectin and its correlation with disease severity in SCA, suggesting that adiponectin does not constitute part of the endocrinopathy affecting these patients in the steady state.
FRONTIERS IN GENETICS
(2022)
Article
Hematology
Alexis Leonard, Akshay Sharma, Naoya Uchida, David Stroncek, Sandhya R. Panch, Kamille West, Eoghan Molloy, Thomas E. Hughes, Sara Hauffe, Tiffani Taylor, Courtney Fitzhugh, Jane S. Hankins, Megan Wilson, Shengdar Q. Tsai, Mitchell J. Weiss, Matthew Hsieh, John F. Tisdale
Summary: Recent studies have shown that plerixafor mobilization and apheresis in patients with sickle cell disease can safely collect sufficient CD34(+) hematopoietic stem cells for clinical gene therapy applications. The quantity of CD34(+) cells mobilized by plerixafor varies among SCD patients for unknown reasons, and factors influencing this yield include age, baseline and pre-apheresis CD34(+) cell counts, and disease severity markers unique to SCD.
Article
Hematology
Suella Martino, Jean-Benoit Arlet, Marie-Helene Odievre, Vincent Jullien, Martina Moras, Claude Hattab, Thibaud Lefebvre, Laurent Gouya, Mariano A. Ostuni, Sophie D. Lefevre, Caroline Le Van Kim
Summary: This study revealed an abnormal retention of mitochondria in some SCD patients, along with specific biochemical changes. Meanwhile, alterations in levels of related proteins also play a role in the development of the disease.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Review
Medicine, General & Internal
Mohammad S. Akhter, Hassan A. Hamali, Hina Rashid, Gasim Dobie, Aymen M. Madkhali, Abdullah A. Mobarki, Johannes Oldenburg, Arijit Biswas
Summary: Advanced mitochondrial multi-omics reveal the significant involvement of mitochondria in cell physiology, influencing cell structure, function, signaling, and fate. Mitochondrial dysfunction plays a crucial role in acquired and genetic diseases, including sickle cell disease. Mitochondrial anomalies, such as altered mitophagy, increased ROS, and mitochondrial DNA, contribute to the severity of sickle cell disease and its pathological cascade.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Adama I. Ladu, Caroline Jeffery, Abubakar Farate, Abubakar G. Farouk, Aisha M. Abba, Adekunle Adekile, Imelda Bates
Summary: The study aimed to explore the factors associated with the preservation of the spleen in patients with sickle cell disease (SCD). Results showed that the visualisation of the spleen on ultrasonography was significantly associated with high levels of hemoglobin F (HbF). Early administration of hydroxyurea, which increases HbF levels, is expected to help preserve the spleen.
TROPICAL MEDICINE & INTERNATIONAL HEALTH
(2023)
Article
Hematology
Berengere Koehl, Livia Claude, Karen Reminy, Vanessa Tarer, Veronique Baccini, Marc Romana, Yves Colin-Aronovicz, Vijaya L. Damaraju, Michael Sawyer, Thierry Peyrard, Maryse Etienne-Julan, Caroline Le Van Kim, Slim Azouzi, Luc Reininger
Summary: This study investigated the expression of erythrocyte ENT1 in adult patients with sickle cell disease (SCD) and carriers of sickle cell trait (SCT). The results showed that the expression levels of erythrocyte ENT1 were not significantly different from normal controls in patients with SCD in steady state conditions. However, the expression of erythrocyte ENT1 was significantly decreased in SCD patients during painful vaso-occlusive episodes and in healthy SCT carriers.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Multidisciplinary Sciences
El Hadji Malick Ndour, Khuthala Mnika, Fatou Gueye Tall, Moussa Seck, Indou Deme Ly, Victoria Nembaware, Gaston Kuzamunu Mazandu, Helene Ange Therese Sagna Bassene, Rokhaya Dione, Aliou Abdoulaye Ndongo, Jean Pascal Demba Diop, Nene Oumou Kesso Barry, Moustapha Djite, Rokhaya Ndiaye Diallo, Papa Madieye Gueye, Saliou Diop, Ibrahima Diagne, Aynina Cisse, Ambroise Wonkam, Philomene Lopez Sall
Summary: This study showed a relatively high proportion of sickle cell nephropathy among patients living with sickle cell anemia in Senegal. Microglucosuria, proteinuria, tubular proteinuria, microalbuminuria, hyposthenuria, and glomerular hyperfiltration were the most prevalent biomarkers of nephropathy in this group of Senegalese patients with sickle cell anemia.
Review
Urology & Nephrology
Kenneth Ataga, Santosh L. Saraf, Vimal K. Derebail
Summary: Sickle cell syndromes are associated with kidney abnormalities and nephropathy. The pathophysiology of SCD-related nephropathy is multifactorial, including oxidative stress, hyperfiltration, and glomerular hypertension. Patients with SCD experience faster decline in kidney function and often present with albuminuria. Multiple genetic modifiers are also implicated in the development and progression of SCD-related nephropathy. Chronic kidney disease and rapid decline in estimated glomerular filtration rate are associated with increased mortality in SCD patients.
NATURE REVIEWS NEPHROLOGY
(2022)
Article
Pediatrics
Ilaria Liguoro, Michele Arigliani, Bethany Singh, David Rees, Baba P. D. Inusa, Atul Gupta
Summary: This study evaluated the acceptability and safety profile of nocturnal long-term oxygen therapy (LTOT) in children with sickle cell disease (SCD) and chronic hypoxaemia in two tertiary hospitals in London, UK. The results showed that LTOT is a safe and feasible treatment option for these children, with no major adverse events reported.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Article
Biophysics
A. P. Fellows, M. T. L. Casford, P. B. Davies, J. S. Gibson, N. Brewin, D. C. Rees
Summary: The study utilizes atomic force microscopy nano-infrared spectroscopy to investigate the surface exposure of sickle cell disease (SCD) red blood cells, revealing increased phosphatidylserine exposure and oxidative damage under hypoxic conditions, which correlates with enhanced adhesion. The findings suggest a mechanistic explanation involving significant lipid tail disruption and varying concentrations of externalized PS lipids to explain the observed adhesion behavior. These results provide important insights into the pathogenesis of SCD.
COLLOIDS AND SURFACES B-BIOINTERFACES
(2021)
Article
Hematology
Ryan Griffin, Andreas Panayiotou, Pamela Allen, Sue Height, Subarna Chakravorty, David C. Rees
Summary: Chest X-rays in children with sickle cell disease have limited clinical utility, with most examinations not revealing clinically significant abnormalities. Respiratory distress, hypoxia, and cough are indicators more likely to yield important findings on X-rays. A decision tool using specific criteria can improve the sensitivity of X-ray examinations for clinically significant findings.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Melanie Egli, Alicia Hartmann, Helena Rapp Wright, Keng Tiong Ng, Frederic B. Piel, Leon P. Barron
Summary: The study introduces a rapid direct-injection liquid chromatography-tandem mass spectrometry method for the quantitative determination of 102 emerging concern chemicals in river water, revealing concentration differences across different rivers and assessing the potential risks posed by these CECs to the environment.
Letter
Hematology
Barbara J. Bain, Tim Littlewood, David C. Rees
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Amina Nardo-Marino, Jesper Petersen, John N. Brewin, Henrik Birgens, Thomas N. Williams, Jorgen A. L. Kurtzhals, David C. Rees, Andreas Glenthoj
Summary: This study found a significant correlation between Oxygenscan-derived biomarkers and modifiers of disease severity in SCA, but failed to find any independent predictive value of Oxygenscan in clinical outcomes.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Letter
Hematology
John Brewin, Sara El Hoss, John Strouboulis, David Rees
Article
Endocrinology & Metabolism
Hanne Stotesbury, Patrick W. Hales, Melanie Koelbel, Anna M. Hood, Jamie M. Kawadler, Dawn E. Saunders, Sati Sahota, David C. Rees, Olu Wilkey, Mark Layton, Maria Pelidis, Baba P. D. Inusa, Jo Howard, Subarna Chakravorty, Chris A. Clark, Fenella J. Kirkham
Summary: Using arterial spin labelling (ASL), this study quantified high venous signal in patients with sickle cell anemia (SCA) and explored its associations with arterial oxygen content, disease-modifying treatments, cerebral infarction, and cognitive performance. The findings suggest the usefulness of multiTI ASL in objectively quantifying and identifying markers of regional hemodynamic stress in patients with SCA.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2022)
Article
Public, Environmental & Occupational Health
Anuja P. Premawardhena, Dileepa Senajith Ediriweera, Amir Sabouhanian, Angela Allen, David Rees, Shanthimala de Silva, Windsor Perera, Nimal Katugaha, Mahinda Arambepola, Robert C. Yamashita, Sachith Mettananda, Nilam Jiffry, Vikita Mehta, Refai Cader, Dayananda Bandara, Timothy St Pierre, Giulia Muraca, Christopher Fisher, Abirami Kirubarajan, Shawn Khan, Stephen Allen, Sanath P. Lamabadusuriya, David J. Weatherall, Nancy F. Olivieri
Summary: The study conducted long-term observations on the survival and complications of patients with haemoglobin E thalassaemia, finding that male patients, those with a history of serious infections, and patients with higher estimated body iron burdens had poorer survival rates.
LANCET GLOBAL HEALTH
(2022)
Article
Hematology
Amina Nardo-Marino, Andreas Glenthoj, John N. Brewin, Jesper Petersen, Thomas H. Braunstein, Jorgen A. L. Kurtzhals, Thomas N. Williams, David C. Rees
Summary: This study examined spleen size and function in children with sickle cell anemia. The results showed a high prevalence of spleen dysfunction, which was not related to hemoglobin F levels or hydroxyurea treatment. Additionally, there was a strong association between erythrocyte deformability, spleen size, and function.
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Environmental Sciences
Muhammad Saleem Khan, Philippa Douglas, Anna L. Hansell, Nicholas J. Simmonds, Frederic B. Piel
Summary: This novel national study found that adults with cystic fibrosis living near composting sites may experience reductions in lung function, increased risk of pulmonary exacerbations, and more frequent fungal infections. These results could have important implications for the living environment of cystic fibrosis patients.
ENVIRONMENTAL HEALTH
(2022)
Article
Medicine, General & Internal
Dennis L. Chao, Assaf P. Oron, Guillaume Chabot-Couture, Alayo Sopekan, Uche Nnebe-Agumadu, Imelda Bates, Frederic B. Piel, Obiageli Nnodu
Summary: This study estimated the contribution of malaria and sickle cell disease to anemia among children aged 6-59 months in Nigeria using data from the 2018 Demographic and Health Survey. The results showed that the majority of severe anemia was attributable to malaria, and sickle cell disease had a protective effect against anemia.
Article
Public, Environmental & Occupational Health
Brandon Parkes, Massimo Stafoggia, Daniela Fecht, Bethan Davies, Carl Bonander, Francesca De' Donato, Paola Michelozzi, Frederic B. Piel, Ulf Stroemberg, Marta Blangiardo
Summary: Research analyzes the variations in excess mortality within communities in England, Italy, and Sweden during the first year of the pandemic. The study finds that deprivation and overcrowding are strong predictors of excess mortality across the three countries.
EUROPEAN JOURNAL OF PUBLIC HEALTH
(2023)
Review
Hematology
Gordon W. Stewart, John S. Gibson, David C. Rees
Summary: This review discusses a series of dominantly inherited haemolytic anaemias characterized by the leakage of univalent cations from the erythrocyte membrane, leading to compromised osmotic stability of the cell. Most of these conditions are caused by mutations in six genes encoding different multispanning membrane proteins. The review describes the five clinical syndromes associated with genetic defects in these genes and their variable genotype/phenotype relationships.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Environmental Sciences
Melanie Egli, Helena Rapp-Wright, Olukemi Oloyede, William Francis, Rhys Preston-Allen, Stav Friedman, Guy Woodward, Frederic B. Piel, Leon P. Barron
Summary: The SARS-CoV-2 pandemic had significant impacts on urban river ecosystems in Greater London, leading to changes in occurrence and risks of emerging contaminants. The study used advanced methods to analyze a large number of samples and identified pharmaceutical contaminants in the waterways. The findings provide valuable insights into the effects of the pandemic on urban river ecosystems and highlight the importance of monitoring and addressing contamination risks.
ENVIRONMENT INTERNATIONAL
(2023)