Brain injury in children with sickle cell disease: Prevalence and etiology

2003 ◽  
Vol 54 (5) ◽  
pp. 564-572 ◽  
Author(s):  
R. Grant Steen ◽  
Xiaoping Xiong ◽  
James W. Langston ◽  
Kathleen J. Helton
Keyword(s):  
Brain Injury ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Disease Prevalence ◽  
Cell Disease

scholarly journals Red blood cell alloimmunization in sickle cell disease: prevalence in 2010

Transfusion ◽  
2012 ◽  
Vol 53 (4) ◽  
pp. 704-709 ◽  
Author(s):  
Scott T. Miller ◽  
Hae-Young Kim ◽  
Debra L. Weiner ◽  
Carrie G. Wager ◽  
Dianne Gallagher ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Disease Prevalence ◽  
Cell Disease

Glial Fibrillary Acidic Protein as a Plasma Biomarker of Brain Injury in Children with Sickle Cell Disease.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 1512-1512
Author(s):  
William J Savage ◽  
Zongming Fu ◽  
Emily Barron-Casella ◽  
Pratima Dulloor ◽  
Jacky Jennings ◽  
...  
Keyword(s):  
Brain Injury ◽  
Sickle Cell Disease ◽  
Glial Fibrillary Acidic Protein ◽  
Acute Stroke ◽  
Sickle Cell ◽  
Cerebral Infarct ◽  
Cell Disease ◽  
Neurologic Injury ◽  
Plasma Biomarker ◽  
Cross Sectional

Abstract Abstract 1512 Poster Board I-535 Introduction In children with sickle cell disease (SCD), silent cerebral infarct (SCI) is an independent risk factor for lower IQ, poorer school performance, and overt stroke. MRI is the only method to identify patients with SCI. A blood biomarker of SCI in patients with sickle cell disease (SCD) would fill a clinical void because blood is easy to obtain and measure, a biomarker may determine risk of or progression of neurologic injury to overt stroke, and a biomarker could benchmark current and new therapies for SCI and other subclinical forms of neurologic injury in SCD. We hypothesized that an unbiased proteomics screen of plasma from sickle cell patients would yield biomarkers of brain injury. Methods A cross-sectional sample of children 5-14 years old with sickle cell disease (HbSS and HbSB0) who were screened for the Silent Infarct Transfusion (SIT) Trial (ClinicalTrials.gov NCT00072761) were studied (n=258) along with 60 age-matched healthy controls and 28 adults with overt brain injury. For biomarker discovery, plasma underwent depletion of hemoglobin with nickel- nitrilotriacetic acid and immunoaffinity depletion of the 12 most abundant plasma proteins. After fractionation by reverse phase liquid chromatography over a C18 column and acetonitrile gradient and trypsin digestion, peptide spectra from each fraction were obtained by LC/MS/MS (LTQ-Orbitrap) and were searched using X!Tandem and human IPI database version 3.5. Post search analysis was performed using Proteomics Analysis Software System (Integrated Analysis Inc., Bethesda, MD). An electrochemiluminescent immunoassay was developed for one of the candidate proteins identified, glial fibrillary acidic protein (GFAP), for protein validation (MesoScale Discovery). Results GFAP, a brain-specific intermediate filament known to be a marker of acute stroke and head trauma in adults, was identified in discovery sample plasma. Four percent of sickle cell subjects in steady-state had plasma GFAP concentrations similar to stroke and brain surgery controls (>0.45 ng/mL). Among sickle cell subjects 5-14 years old screened for the SIT Trial, 9.3% had GFAP concentrations above the 95th percentile of age-matched controls (95th percentile cutoff: 0.227 ng/mL; p=0.08). Sickle cell subjects with silent cerebral infarct (SCI) had more elevations above the normal 95th percentile (10/69; 14.5%) than those without SCI (9/131; 6.8%), although this difference was not statistically significant (p=0.08). The sensitivity of GFAP as a marker of brain injury was demonstrated in a case of an 11 year-old child with HbSS and acute stroke in which plasma GFAP was 1.52 ng/mL (6 times the normal control 95th percentile) before the stroke was clinically evident and peaked at 2.83 ng/mL. We discovered GFAP as a circulating brain protein in plasma of children with SCD. Plasma GFAP is a marker of acute stroke in sickle cell disease but discriminates only minimally between SCI and non-SCI status in the SIT Trial using baseline cross-sectional samples. Four percent of children with sickle disease 5-14 years old have plasma GFAP levels similar to controls with severe brain injury without clinical evidence of overt stroke. Conclusions Elevations in circulating brain proteins such as GFAP show promise as indicators of subacute brain injury in children with SCI, but will require longitudinal studies of plasma GFAP in children with SCI to clarify the utility of GFAP as a plasma biomarker of SCI and a predictor of neurologic risk. Disclosures No relevant conflicts of interest to declare.

scholarly journals Sickle Cell Disease: New Opportunities and Challenges in Africa

2013 ◽  
Vol 2013 ◽  
pp. 1-16 ◽  
Author(s):  
J. Makani ◽  
S. F. Ofori-Acquah ◽  
O. Nnodu ◽  
A. Wonkam ◽  
K. Ohene-Frempong
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Laboratory Diagnosis ◽  
Disease Prevalence ◽  
Limited Resources ◽  
Pathophysiological Mechanism ◽  
Global Level ◽  
Cell Disease ◽  
The Third ◽  
Clinical Events

Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted.

725 Liver involvement in acute vaso-occlusive crisis of patients with sickle cell disease: Prevalence and predisposing factors

2006 ◽  
Vol 44 ◽  
pp. S266-S267
Author(s):  
N. Sevastos ◽  
J. Koskinas ◽  
G.H. Zacharakis ◽  
N. Galiatsos ◽  
E. Manesis ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Disease Prevalence ◽  
Predisposing Factors ◽  
Liver Involvement ◽  
Cell Disease

Brain MRI Findings in Lebanese Sickle Cell Disease Patients.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3794-3794
Author(s):  
Adlette Inati ◽  
Youssef Rachkidi ◽  
Ossama Jradi ◽  
Rabih Wehbe ◽  
Habib Moallem ◽  
...  
Keyword(s):  
Brain Injury ◽  
Sickle Cell Disease ◽  
Brain Imaging ◽  
Sickle Cell ◽  
Brain Mri ◽  
Bivariate Analysis ◽  
Cell Disease ◽  
Mri Findings ◽  
Asymptomatic Patients ◽  
Stroke Prevalence

Abstract Background: Sickle cell disease (SCD) is one of the most prevalent hemoglobinopathies in Lebanon. Acute stroke, defined as an acute neurological syndrome secondary to arterial occlusion or hemorrhage with resultant neurological symptoms and signs lasting for more than 24 hours, is the most catastrophic brain injury seen in this disorder and has a prevalence of around 10% by 50 years of age. Silent cerebral infarcts (SCI), defined as an abnormal magnetic resonance image (MRI) of the brain and no history of neurologic deficit, are seen in 20–44% of children with sickle cell anemia (SCA) and represent a major risk factor for overt stroke. Identifying asymptomatic patients at high risk of developing sickle-related brain injury helps physicians implement preventive therapies. Aims: Determine prevalence of brain imaging abnormalities in a group of Lebanese patients with SCD and Identify predictive factors for these abnormalities. Methods: A review of brain MRI for 53 SCD patients followed in 2 centers specialized in inherited hemoglobin disorders was undergone. Of those, 42 asymptomatic patients had surveillance brain MRI and 20 had imaging at least twice. T1- and T2- weighted MR imaging at 1.0 T plus FLAIR at 5-mm section thickness were used. All images were read independently by two radiologists with a 10 years experience in neuroradiology. Brain images considered abnormal included atrophy, lacunar infarction, leukoencephalopathy and encephalomalacia. Fisher’s Exact test (Wilcoxon two sample rank-sum test) was employed to study the association of binary data (continuous data) with the 2 groups. The SAS v8.2 (Cary, N.C.) was used to analyze the data. A p-value less than 0.05 was considered significant. Results: Overall stroke prevalence in this group was 34% (18/53). 11 patients (21%), median age 14 years and 6 months, had overt strokes. Of those, 91% had SCA and 9% sickle beta thalassemia (ST). Of the remaining 42 patients, 6 (14%), median age 13 years and 5 months, all having SCA, had MRI findings compatible with SCI. 3 had brain atrophy and 3 encephalomalacia. None of the overt stroke patients had ever received hydroxyurea. As for SCI patients, 5 were on hydroxyurea at imaging time. No one of these 5 had undergone brain imaging prior to hydroxyurea treatment, and it is possible that these SCI are old ones. Bivariate analysis showed an association between the occurrence of overt stroke and premature death (p=0.006), regular blood transfusions (p=0.006), and osteomyelitis (p=0.009). Bivariate analysis showed an association between the occurrence of SCI and presentation of disease before 2 years of age (p=0.053, borderline) and acute chest syndrome (p=0.035). The small number of patients in this group did not allow for multivariate analysis. Conclusion: Stroke prevalence rate in Lebanese SCD patients is lower than reports from others. This may be attributed to the small sample size and to the imaging technology utilized being less sensitive than newer MRI technology. A multicenter Lebanese SCD trial is warranted to assess the true stroke prevalence, the importance of modifying genes and gene-gene interaction in predicting stroke risk, and the efficacy of hydroxyurea for primary stroke prevention.

Liver involvement in acute vaso-occlusive crisis of sickle cell disease: Prevalence and predisposing factors

2007 ◽  
Vol 42 (4) ◽  
pp. 499-507 ◽  
Author(s):  
John Koskinas ◽  
Emanuel K. Manesis ◽  
George H. Zacharakis ◽  
Nikolaos Galiatsatos ◽  
Nikolaos Sevastos ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Disease Prevalence ◽  
Predisposing Factors ◽  
Liver Involvement ◽  
Cell Disease

scholarly journals Chronic Kidney Disease in Sickle Cell Disease: Prevalence and Associated Factors in Cameroon

2019 ◽  
Vol 5 (2) ◽  
Author(s):  
Menye Hermine Danielle Fouda ◽  
Wandji Gilles ◽  
Kaze Francois F ◽  
Teuwafeu Denis G ◽  
Kane Yaya ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Sickle Cell Disease ◽  
Kidney Disease ◽  
Sickle Cell ◽  
Associated Factors ◽  
Disease Prevalence ◽  
Cell Disease
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