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Sickle cell anemia

Sanjay Tewari, George Renney, John Brewin, Kate Gardner, Fenella Kirkham, Baba Inusa, James E Barrett, Stephan Menzel, Swee Lay Thein, Malcolm Ward, David C Rees
Silent cerebral infarction is the commonest neurological abnormality in children with sickle cell anemia, affecting 30-40% 14 year olds. There are no known biomarkers to identify children with silent cerebral infarcts and the pathological basis is also unknown. We used an unbiased proteomic discovery approach to identify plasma proteins differing in concentration between children with and without silent cerebral infarcts. Clinical parameters and plasma samples were analysed from 51 children (mean age 11.8 years, range 6-18) with sickle cell anemia (HbSS)...
March 15, 2018: Haematologica
Christian A Schaer, Catherine Owczarek, Jeremy W Deuel, Stefan Schauer, Jin Hyen Baek, Ayla Yalamanoglu, Matthew P Hardy, Pierre D Scotney, Peter M Schmidt, Matthias Pelzing, Peter Soupourmas, Paul W Buehler, Dominik J Schaer
BACKGROUND: Preclinical studies have evaluated haptoglobin (Hp) polymers from pooled human plasma as a therapeutic protein to attenuate toxic effects of cell-free hemoglobin (Hb). Proof of concept studies have demonstrated efficacy of Hp in hemolysis associated with transfusion and sickle cell anemia. However, phenotype-specific Hp products might be desirable to exploit phenotype specific activities of Hp 1-1 versus Hp 2-2, offering opportunities for recombinant therapeutics. Prohaptoglobin (proHp) is the primary translation product of the Hp mRNA...
March 15, 2018: BMC Biotechnology
Isabela Cristina Cordeiro Farias, Taciana Furtado Mendonça-Belmont, Andreia Soares da Silva, Kleyton Palmeira do Ó, Felipe Ferreira, Fernanda Silva Medeiros, Luydson Richardson da Silva Vasconcelos, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Patricia Muniz Mendes Freire de Moura, Betânia Lucena Domingues Hatzlhofer, Ana Claudia Mendonça Dos Anjos, Maria do Socorro de Mendonça Cavalcanti
The SOD2 polymorphism Val16Ala T→C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Daniel Shriner, Charles N Rotimi
Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the sickle mutation by using whole-genome-sequence data. We identified 156 carriers from the 1000 Genomes Project, the African Genome Variation Project, and Qatar...
March 7, 2018: American Journal of Human Genetics
Ilknur Kozanoglu, Hakan Ozdogu
Sickle cell disease (SCD) is a life-threatening chronic condition primarily caused by genetic mutation. The disease is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Acute complications in patients with SCD are difficult to manage due to the pathophysiological nature of the disease. Transfusion therapy is the cornerstone of management of acute complications and significantly reduces SCD morbidity and mortality. Red cell exchange (RCE), which is characterized by low iron accumulation and volume overload, has been widely used for transfusion therapy in recent years...
February 21, 2018: Transfusion and Apheresis Science
Lori C Jordan, Dionna O Roberts Williams, Mark J Rodeghier, Brittany Covert, Maria R Ponisio, James F Casella, Robert C McKinstry, Michael J Noetzel, Fenella J Kirkham, Emily R Meier, Beng Fuh, Melissa McNaull, Sharada Sarnaik, Suvankar Majumdar, Timothy L McCavit, Michael R DeBaun
In a prospective cohort study, we tested the hypothesis that children with sickle cell anemia (SCA) with normal transcranial Doppler ultrasound (TCD) velocities and without silent cerebral infarcts (SCIs) would have a lower incidence rate of new neurological events (strokes, seizures or transient ischemic attacks) compared to children with normal TCD measurements and SCIs, not receiving regular blood transfusions. Non-randomized participants from the Silent Cerebral Infarct Transfusion (SIT) Trial who had screening magnetic resonance imaging (MRI) of the brain and normal TCD measurements were included...
March 9, 2018: American Journal of Hematology
Clarisse Lopes de Castro Lobo, Emilia Matos do Nascimento, Leonardo José Carvalho de Jesus, Thiago Gotelip de Freitas, Jocemir Ronaldo Lugon, Samir K Ballas
OBJECTIVE: To determine the mortality rate of children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil. METHODS: The number of deaths, the mortality rate and the causes of deaths in patients with sickle cell anemia who were treated and followed up at our institution for 15 years were determined and compared to data available for the Brazilian population. RESULTS: The overall number of deaths was 281 patients with a mortality rate of 16...
January 2018: Revista Brasileira de Hematologia e Hemoterapia
Marie-Laure Lalanne-Mistrih, Philippe Connes, Yann Lamarre, Nathalie Lemonne, Marie-Dominique Hardy-Dessources, Vanessa Tarer, Maryse Etienne-Julan, Dominique Mougenel, Benoît Tressières, Marc Romana
BACKGROUND: The pathophysiology of sickle cell disease (SCD) and the variability of its clinical expression remain not fully understood, whether within or between different SCD genotypes. Recent studies have reported associations between lipid levels and several SCD complications. If lipid levels have been previously described as low in sickle cell anemia (SCA), few data have been provided for sickle cell SC disease (SCC). We designed our epidemiological study to isolate lipid levels and profiles by genotype in Guadeloupian cohorts of SCA and SCC adult patients, at steady state...
March 5, 2018: Lipids in Health and Disease
Halima W M Al Balushi, David C Rees, John N Brewin, Anke Hannemann, John S Gibson
Red cells from patients with sickle cell anemia (SCA) are under greater oxidative challenge than those from normal individuals. We postulated that oxidants generated by xanthine oxidase (XO) and hypoxanthine (HO) contribute to the pathogenesis of SCA through altering solute permeability. Sickling, activities of the main red cell dehydration pathways (Psickle , Gardos channel, and KCl cotransporter [KCC]), and cell volume were measured at 100, 30, and 0 mmHg O2 , together with deoxygenation-induced nonelectrolyte hemolysis...
March 2018: Physiological Reports
Hanne Stotesbury, Patrick W Hales, Fenella J Kirkham
No abstract text is available yet for this article.
March 2, 2018: Neurology
Furahini Tluway, Florence Urio, Bruno Mmbando, Raphael Zozimus Sangeda, Abel Makubi, Julie Makani
BACKGROUND: Sickle cell disease (SCD) is the most common inherited disorder worldwide, with the highest burden in sub-Saharan Africa. The natural history of SCD is characterized by periods of steady state interspersed by acute episodes. The acute anemic crises may be transient and are precipitated by treatable factors like infections, nutritional deficiencies, and sequestration. Anemia is almost always present, although it occurs at different levels of severity. OBJECTIVE: This paper describes the protocol of a cross-sectional study to determine the prevalence of severe anemia and associated factors among sickle cell patients hospitalized at the Muhimbili National Hospital...
February 28, 2018: JMIR Research Protocols
Marina Viegas Moura Rezende Ribeiro, João Vitor de Omena Jucá, Anna Luyza Correia Dos Santos Alves, Caio Victor Oliveira Ferreira, Fabiano Timbó Barbosa, Êurica Adélia Nogueira Ribeiro
Hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis of hemoglobin. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vaso-occlusive phenomena. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Therefore, periodic ophthalmologic monitoring of these patients is important for early diagnosis and adequate therapeutic management, which can be done localy by treating the lesions in the eyes, or systemically...
December 2017: Revista da Associação Médica Brasileira
Rodrigo J Valderrábano, Joy Y Wu
Under physiologic conditions hematopoiesis takes place in the bone marrow, and the skeleton provides the structural and supportive network necessary for normal hematopoiesis. Chronic disorders affecting hematopoiesis such as sickle cell anemia and thalassemia demonstrate striking skeletal phenotypes including bone loss and increased fracture risk. There is mounting evidence that anemia in older populations may also be associated with bone fragility. Given the interconnectedness of bone and hematopoietic cells, it is important to review the potential clinical implications and opportunities for therapeutic intervention...
February 21, 2018: Bone
Santosh L Saraf, Justin R Sysol, Alexandru Susma, Suman Setty, Xu Zhang, Krishnamurthy P Gudehithlu, Jose A L Arruda, Ashok K Singh, Roberto F Machado, Victor R Gordeuk
Homozygosity for the hemoglobin (Hb) S mutation (HbSS, sickle cell anemia) results in hemoglobin polymerization under hypoxic conditions leading to vaso-occlusion and hemolysis. Sickle cell anemia affects 1:500 African Americans and is a strong risk factor for kidney disease, although the mechanisms are not well understood. Heterozygous inheritance (HbAS; sickle cell trait) affects 1:10 African Americans and is associated with an increased risk for kidney disease in some reports. Using transgenic sickle mice, we investigated the histopathologic, ultrastructural, and gene expression differences with the HbS mutation...
February 2, 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
Nancy L Van Buren, Jed B Gorlin, Robyn C Reed, Jerome L Gottschall, Stephen C Nelson
BACKGROUND: Acute splenic sequestration crisis is a complication of sickle cell disease (SCD) occurring when intrasplenic red blood cell (RBC) sickling prevents blood from leaving the spleen, causing acute splenic enlargement. Although typically seen in young children, it has been reported in older children with hemoglobin (Hb)SC disease, eventually resulting in functional asplenia. Ceftriaxone is a frequently used antibiotic of choice for children with SCD, because of its efficacy against invasive pneumococcal disease...
February 22, 2018: Transfusion
Dipty Jain, Dipika Mohanty
PURPOSE OF REVIEW: In the past, milder clinical manifestations of sickle cell disease (SCD) have been described from India. However, recent data from some parts of India suggest that the severity of the disease can be compared to that of African phenotypes. This review therefore describes the varied clinical manifestation of SCD, the success of newborn screening programme, prenatal diagnosis and low dose hydroxyurea therapy in India. RECENT FINDINGS: The varied clinical manifestations such as anemia, vaso-occlusive crisis, acute chest syndrome, renal involvement, stroke and so on vary from one part of the country to the other and also among different communities of India...
February 19, 2018: Current Opinion in Hematology
Hui Zhong, Karina Yazdanbakhsh
PURPOSE OF REVIEW: Hemolytic anemias caused by premature destruction of red blood cells occur in many disorders including hemoglobinopathies, autoimmune conditions, during infection or following reaction to drugs or transfusions. Recent studies which will be reviewed here have uncovered several novel mechanisms by which hemolysis can alter immunological functions and increase the risk of severe complications in hemolytic disorders. RECENT FINDINGS: Plasma-free heme can induce the formation of neutrophil extracellular traps (NETs) through reactive oxygen species signaling...
February 15, 2018: Current Opinion in Hematology
Céline Renoux, Philippe Joly, Camille Faes, Pauline Mury, Buse Eglenen, Mine Turkay, Gokce Yavas, Ozlem Yalcin, Yves Bertrand, Nathalie Garnier, Daniela Cuzzubbo, Alexandra Gauthier, Marc Romana, Berenike Möckesch, Giovanna Cannas, Sophie Antoine-Jonville, Vincent Pialoux, Philippe Connes
OBJECTIVES: To investigate the associations between several sickle cell disease genetic modifiers (beta-globin haplotypes, alpha-thalassemia, and glucose-6-phosphate dehydrogenase deficiency) and the level of oxidative stress and to evaluate the association between oxidative stress and the rates of vaso-occlusive events. STUDY DESIGN: Steady-state oxidative and nitrosative stress markers, biological variables, genetic modulators, and vaso-occlusive crisis events requiring emergency admissions were measured during a 2-year period in 62 children with sickle cell anemia (58 SS and 4 Sβ 0 )...
February 13, 2018: Journal of Pediatrics
Giordana Feriotto, Nicola Marchetti, Valentina Costa, Piera Torricelli, Simone Beninati, Federico Tagliati, Carlo Mischiati
Re-expression of fetal hemoglobin (HbF) was proposed as a possible therapeutic strategy for β-haemoglobinopathies. Although several inducers of HbF were tested in clinical trials, only hydroxyurea (HU) received FDA approval. Despite it produced adequate HbF levels only in half of HU-treated SCD patients, and was ineffective at all in β-thalassemia patients, beneficial effects of this approach suggested to continue in this direction identifying further molecules capable of inducing HbF. We tested the potential of essential oil isolated from Ocimum basilicum L...
February 13, 2018: Fitoterapia
F Martino, R Di Mauro, K Paciaroni, J Gaziev, C Alfieri, L Greco, R Floris, S Di Girolamo, M Di Girolamo
OBJECTIVES: Sickle cell anemia (SCA) and β -thalassemia major are well-recognized beta-globin gene disorders of red blood cells associated to mortality and morbidity included bone morbidities due to ineffective erythropoiesis and bone marrow expansion, which affect every part of the skeleton. While there are an abundance of described disease manifestations of the head and neck, the manner of paranasal sinuses involvement and its relations to β-thalassemia and SCA process was not studied yet...
March 2018: International Journal of Pediatric Otorhinolaryngology
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