BIBLIOMETRIC ANALYSIS OF GLOBAL SICKLE CELL DISEASE RESEARCH FROM 1997 – 2017

Abstract Background: Sickle cell disease (SCD) is an autosomal recessive genetic disease caused by single point mutation in the β-globin chain of the hemoglobin. It has been recognized by World Health Organization as a public health priority since 2006. Methods: Scopus database was used in this study with the search descriptors: “sickle cell” and “sickle cell disease”. We applied common bibliometric indicators to evaluate the trend in scientific literature in sickle cell disease research. Results: We retrieved a total of 19,921 scientific literatures in the repertoire from 1997 to 2017. Price law was fulfilled in the trend of production of scientific literature in SCD as the growth of scientific literature was more exponential (r = 0.959) than linear (r = 0.9449). We observed a duplication time of 4.55 years. The Bradford core was made up of 69 journals with Blood at the top, publishing the most number of articles. The most productive institutions were mostly United States agencies and hospitals. United States was the most productive country. National Institute of Health was the most productive institution and also had the highest number of citation. Vichinsky E was the most productive author while the most cited article was published by Circulation. Conclusion: The growth of scientific literature in SCD was found to be high. However, the exponential growth trend shows a “yet-to-be-explored” area of research. This study will be useful for physicians, researchers, research funders, policy cum decision makers.

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Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management

The Scientific World JOURNAL ◽

10.1100/2012/949535 ◽

2012 ◽

Vol 2012 ◽

pp. 1-55 ◽

Cited By ~ 73

Author(s):

Samir K. Ballas ◽

Muge R. Kesen ◽

Morton F. Goldberg ◽

Gerard A. Lutty ◽

Carlton Dampier ◽

...

Keyword(s):

Sickle Cell Disease ◽

Point Mutation ◽

Sickle Cell ◽

Globin Gene ◽

Single Point ◽

Acute Chest Syndrome ◽

Single Point Mutation ◽

Cell Disease ◽

Exon 1 ◽

Abnormal Hemoglobin

The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of theβglobin gene resulting in the substitution of glutamic acid by valine at position 6 of theβglobin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes.

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Cardiovascular complications in patients with sickle cell disease

Hematology ◽

10.1182/asheducation-2017.1.423 ◽

2017 ◽

Vol 2017 (1) ◽

pp. 423-430 ◽

Cited By ~ 10

Author(s):

Mark T. Gladwin

Keyword(s):

Sickle Cell Disease ◽

Hemolytic Anemia ◽

Sickle Cell ◽

Single Point ◽

Systolic Pressure ◽

Cardiovascular Complications ◽

Left Ventricular ◽

Pulmonary Artery Systolic Pressure ◽

Single Point Mutation ◽

Cell Disease

Abstract Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene encoding the β-globin chain produces hemoglobin S molecules that polymerize within the erythrocyte during deoxygenation; the result is sustained hemolytic anemia and vaso-occlusive events. As patients live to adulthood, the chronic impact of sustained hemolytic anemia and episodic vaso-occlusive episodes leads to progressive end-organ complications. This scenario culminates in the development of 1 or more major cardiovascular complications of SCD for which there are no approved or consensus therapies. These complications include elevated pulmonary artery systolic pressure, pulmonary hypertension, left ventricular diastolic heart disease, dysrhythmia, sudden death, and chronic kidney disease with associated proteinuria, microalbuminuria, and hemoglobinuria. In patients with advancing age, cardiopulmonary organ dysfunction and chronic kidney injury have significant effects on morbidity and premature mortality. Over the last 15 years, a number of tests have been validated in multiple replicate cohort studies that identify patients with SCD at the highest risk of experiencing pulmonary and systemic vasculopathy and death, providing for screening strategies tied to targeted, more aggressive diagnostic and therapeutic interventions.

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Selenium Deficiency in a Mouse Model of Sickle Cell Disease Resulted in Increased Oxygen Consumption and Aberrant Mitochondrial Retention (OR11-05-19)

Current Developments in Nutrition ◽

10.1093/cdn/nzz044.or11-05-19 ◽

2019 ◽

Vol 3 (Supplement_1) ◽

Author(s):

Lenny Hong ◽

Ramasamy Jagadeeswaran ◽

Robert Molokie ◽

Donald Lavelle ◽

Angela Rivers ◽

...

Keyword(s):

Oxygen Consumption ◽

Sickle Cell Disease ◽

Mouse Model ◽

Sickle Cell ◽

Globin Gene ◽

Single Point ◽

Selenium Deficiency ◽

Single Point Mutation ◽

Cell Disease ◽

Deficient Diet

Abstract Objectives Sickle Cell Disease (SCD) is caused by a single point mutation in the β-globin gene, resulting in the polymerization of the altered hemoglobin βS in hypoxic conditions, affecting millions of people worldwide. Previous studies have shown that there are lower selenium levels and reduced activity of the antioxidant selenoprotein GPX1 in SCD patients. The objective of this study was to investigate the consequences of selenium deficiency in a SCD mouse model. Methods Humanized SCD (HbSS) mice (Townes model) and wild type (HbAA) mice were purchased from Jackson Laboratories (Bar Harbor, ME). Mice were fed either a selenium-deficient (<0.01 mg/kg) or a selenium adequate (0.1 mg/kg) diet for 4 weeks. Hematological testing was performed using the ADVIATM 120 analyzer (Bayer Corporation, NY). Mitochondrial retention and reactive oxygen species (ROS) were measured by flow cytometry with a BD LSRFortessaTM analyzer using Kaluza analysis software (Beckman Coulter, CA). The oxygen consumption rate (OCR) was measured from isolated red blood cells (RBCs) in real time using the Seahorse Extracellular Analyzer (Agilent, CA). Results RBCs normally eject their mitochondria before reaching maturity. However, a previous study demonstrated that there was increased RBC mitochondrial retention in SCD mice and patients when compared to controls. Feeding SCD mice a selenium deficient diet resulted in increased retention of mitochondria in RBCs (26% + 6.9%, 5% + 3.5%, n = 3, P < 0.01), decreased hemoglobin levels (5.7 + 0.17 g/dl, 7.0 + 0.83 g/dl, n = 3, P < 0.05), and an increased OCR of the RBCs (P < 0.01) in these animals when compared to SCD mice fed a selenium adequate diet. Conclusions Providing humanized SCD mice a selenium deficient diet resulted in increased mitochondrial retention in mature RBCs, decrease hemoglobin levels, and increased RBC oxygen consumption. RBC retention of mitochondria is associated with increased ROS and hemolysis, potentially contributing to the pain and vaso-occlusive crises that occur in the disease. These studies indicate that selenium deficiency may contribute to the severity of symptoms experienced by patients with SCD. Funding Sources This work is supported by a grant from the NIH.

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Sickle Cell Anemia: A review on the most severe form of Sickle Cell Disease

Bionatura ◽

10.21931/rb/cs/2019.02.01.19 ◽

2019 ◽

Vol 02 (Bionatura Conference Serie) ◽

Author(s):

María Belén Paredes ◽

María Eugenia Sulen

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Globin Gene ◽

Single Point ◽

Clinical Manifestations ◽

Severe Form ◽

Single Point Mutation ◽

Cell Disease ◽

Hemoglobin S

Sickle cell disease (SCD) is a group of hereditary disorders caused by a single point mutation in the β-globin gene. This mutation results in the formation of a mutated hemoglobin S (HbS) and the consequent sickle phenotype of erythrocytes. SCD is common in regions of malaria endemicity. However, changes in population dynamics enabled the movement of the mutated gene to other areas such as North America and Europe. Sickle cell anemia (SCA) is the most severe form of SCD and affects millions of people around the globe. The clinical manifestations of SCA arise primarily from the polymerization of deoxygenated hemoglobin S (deoxyHbS) leading to vascular occlusion and hemolytic anemia. Clinical complications of the disease are derived from deoxyHbS polymerization, but there are several therapeutic strategies to reduce the severity of the symptoms. Gene therapy has arisen as a new therapeutic approach aimed to cure rather than to treat the symptomatology of SCA by targeting the altered β-globin gene for gene correction.

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Effects of vaccines in patients with sickle cell disease: a systematic review protocol

BMJ Open ◽

10.1136/bmjopen-2017-021140 ◽

2018 ◽

Vol 8 (3) ◽

pp. e021140

Author(s):

Alison Beriliy Wiyeh ◽

Leila Hussein Abdullahi ◽

Ambroise Wonkam ◽

Charles Shey Wiysonge ◽

Mamadou Kaba

Keyword(s):

Systematic Review ◽

Sickle Cell Disease ◽

Sickle Cell ◽

Single Point ◽

Ethical Review ◽

Advisory Group ◽

Single Point Mutation ◽

Common Disease ◽

Cell Disease ◽

Increased Risk

IntroductionSickle cell disease (SCD) is an inherited haematological disorder caused by a single point mutation (Glub6Val) that promotes polymerisation of haemoglobin S and sickling of erythrocytes. Inflammation, haemolysis, microvascular obstruction and organ damage characterise the highly variable clinical expression of SCD. People with SCD are at increased risk of severe infections, hence the need for vaccination against common disease-causing organisms in this population. We aim to review the evidence on the efficacy and safety of vaccines in people with SCD.Methods and analysisThe present systematic review will examine the current data as indexed in PubMed, CENTRAL, EMBASE and EBSCOHost. We will consult Strategic Advisory Group of Experts practice statements, conference abstracts, reference lists of relevant articles, WHO ICTRP trial registry and experts in the field. Two authors will independently screen search outputs, select studies, extract data and assess risk of bias; resolving discrepancies by discussion and consensus between the two authors or arbitration by a third author when necessary. We will perform a meta-analysis for clinically homogenous studies. Evidence from clinically diverse studies will be aggregated using narrative synthesis of the findings. In either case, we will use the GRADE approach to assess the strength of the available evidence.Ethics and disseminationThe study draws on data that are readily available in the public domain, hence no formal ethical review and approval is required. The findings of this review will be disseminated through conference presentations and a publication in a peer-reviewed journal.PROSPERO registration numberCRD42018084051.

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