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Sickle cell carrier

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https://www.readbyqxmd.com/read/28705443/-impact-of-sickle-cell-trait-on-arterial-stiffness-in-african-subjects
#1
V Ouédraogo, R Soleti, I Signolet, M Diaw, M Hallab, A Samb, R Andriantsitohaina, A Ba, G Lefthériotis
Sickle cell trait (SCT) is the benign condition of sickle cell disease. Often asymptomatic, the carriers of the sickle cell trait have hemorheological disturbances with increased oxidative stress compared to healthy subjects. These disturbances can lead to structural and functional changes in large vessels. The aim of the study was to measure arterial stiffness, an independent marker of subclinical atherosclerosis, SCT carriers compared to sickle cell anemia (SCA) subjects. Nine SCT carriers aged 32±9 years (7 men) were compared to 14 SCA subjects aged 29±9 years (2 men) and 22 control subjects aged 34±9 years (11 men) recruited by the National blood transfusion center (CNTS) in Dakar (Senegal)...
February 2017: J Med Vasc
https://www.readbyqxmd.com/read/28699692/granulocyte-colony-stimulating-factor-administration-among-hemoglobin-s-trait-donors-a-single-center-experience-from-the-eastern-mediterranean-region
#2
Cigdem Gereklioglu, Suheyl Asma, Aslı Korur, Songul Tepebası, Pelin Aytan, Mahmut Yeral, Ilknur Kozanoglu, Can Boga, Hakan Ozdogu
BACKGROUND AND OBJECTIVE: Assessment of Hemoglobin S trait donors has gained importance together with the increased allogeneic peripheral stem cell transplant activity for sickle cell disease in the regions where the disease is prevalent. Outcomes of Granulocyte-Colony Stimulating Factor (G-CSF) administration are obscure for hemoglobin S trait donors. This study aims at investigating the incidence of hemoglobin S carrier status and outcomes of G-CSF administration among donors who live in Eastern Mediterranean region...
July 12, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28656815/annals-express-newborn-screening-for-sickle-cell-disorders-using-tandem-mass-spectrometry-ms-ms-3-years-experience-of-using-a-protocol-to-detect-only-the-disease-states
#3
Stuart Moat, Derek Rees, Roanna George, Lawrence King, Alan Dodd, Adeboye Ifederu, Tejswurree Ramgoolam, Sharon Hillier
BACKGROUND: Tandem mass spectrometry (MS/MS) has recently become an alternative method for the newborn screening of sickle cell disorders (SCD), as it is able to detect haemoglobin (Hb) peptides following digestion of bloodspots with trypsin. Using the SpOtOn Diagnostics Reagent Kit, we previously developed a screening protocol to detect only the disease states of SCD, using action values based on the ratio between the variant Hb peptide to wild-type peptide abundances for the HbS, C, D(P)(u)(n)(j)(a)(b), O(A)(r)(a)(b), E and Lepore peptides...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#4
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies. METHODS: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28504327/preferences-for-prenatal-diagnosis-of-sickle-cell-disorder-a%C3%A2-discrete-choice-experiment-comparing-potential-service-users%C3%A2-and-health-care-providers
#5
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE: Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD: A questionnaire that includes a discrete choice experiment was used to determine the preferences of service users and providers for prenatal tests that varied across three attributes: accuracy, time of test and risk of miscarriage...
May 15, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#6
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28361595/the-molecular-spectrum-of-%C3%AE-and-%C3%AE-thalassemia-mutations-in-non-endemic-umbria-central-italy
#7
Paolo Gorello, Francesco Arcioni, Antonietta Palmieri, Ylenia Barbanera, Laura Ceccuzzi, Cecilia Adami, Mauro Marchesi, Antonella Angius, Olivia Minelli, Marina Onorato, Antonio Piga, Maurizio Caniglia, Cristina Mecucci, Antonella Roetto
The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S (HBB: c.20A>T)/β-thal and 85.0% compound heterozygotes for hemoglobin (Hb) variant-carrying patients were diagnosed or molecularly characterized in the last 3 years...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28360235/venous-thromboembolism-in-adults-screened-for-sickle-cell-trait-a-population-based-cohort-study-with-nested-case-control-analysis
#8
Iain Little, Yana Vinogradova, Elizabeth Orton, Joe Kai, Nadeem Qureshi
OBJECTIVE: To determine whether sickle cell carriers ('sickle cell trait') have an increased risk of venous thromboembolism (VTE). DESIGN: Cohort study with nested case-control analysis. SETTING: General population with data from 609 UK general practices in the Clinical Practice Research Datalink (CPRD). PARTICIPANTS: All individuals registered with a CPRD general practice between 1998 and 2013, with a medical record of screening for sickle cell between 18 and 75 years of age...
March 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28280138/sickle-cell-trait-and-the-risk-of-esrd-in-blacks
#9
Rakhi P Naik, Marguerite R Irvin, Suzanne Judd, Orlando M Gutiérrez, Neil A Zakai, Vimal K Derebail, Carmen Peralta, Michael R Lewis, Degui Zhi, Donna Arnett, William McClellan, James G Wilson, Alexander P Reiner, Jeffrey B Kopp, Cheryl A Winkler, Mary Cushman
Blacks, compared with whites, have an increased risk of progression to end-stage renal disease (ESRD). Emerging evidence suggests that, in addition to APOL1 high-risk genotypes, hemoglobin variants, including sickle cell trait (SCT) and hemoglobin C trait, have a role in kidney disease in blacks. However, the association between these hemoglobin traits and ESRD remains unknown. In a large population-based cohort, the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, we evaluated 9909 self-reported blacks (739 with SCT and 243 with hemoglobin C trait)...
March 9, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28270347/mortality-by-sickle-cell-disease-in-brazil
#10
Giovanna Abadia Oliveira Arduini, Letícia Pinto Rodrigues, Alessandra Bernadete Trovó de Marqui
This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms 'mortality' and 'sickle cell disease' and 'Brazil' for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Maranhão, Bahia, Minas Gerais, Rio de Janeiro and Mato Grosso do Sul. The majority of the deaths occurred in patients with sickle cell anemia, which is the most common genotype and causes the most severe clinical manifestation of the disease...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#11
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R Gardner, L Warren, M Jonker
To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013)...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28238414/histological-features-of-bone-marrow-in-paediatric-patients-during-the-asymptomatic-phase-of-early-stage-black-african-sickle-cell-anaemia
#12
Alessandro Mauriello, Erica Giacobbi, Andrea Saggini, Antonella Isgrò, Simone Facchetti, Lucia Anemona
Bone marrow histological features of sickle cell anaemia (SCA) patients during early stages and in the asymptomatic phase of the disease appear an interesting area of study, representing early-stage consequences of SCA with a close relation to its pathophysiology. Unfortunately, this field of research has never been specifically addressed before. Bone marrow biopsies from 26 consecutive Black African SCA patients (M:F=1.6:1; age 2-17 years), free of clinical signs of chronic bone marrow damage, with no recent history of symptomatic vaso-occlusive episodes, and waiting for haematopoietic stem cell transplantation (HSCT), underwent morphological, immunohistochemical and electron microscopy evaluation...
April 2017: Pathology
https://www.readbyqxmd.com/read/28170418/impact-of-prematurity-and-immigration-on-neonatal-screening-for-sickle-cell-disease
#13
Ernesto Cortés-Castell, Antonio Palazón-Bru, Carolina Pla, Mercedes Goicoechea, María Mercedes Rizo-Baeza, Mercedes Juste, Vicente Francisco Gil-Guillén
BACKGROUND: Others have described a relationship between hemoglobin A levels and gestational age, gender and ethnicity. However, studies are needed to determine normal cut-off points considering these factors. To address this issue we designed a study to determine the percentiles of normality of neonatal hemoglobin A levels taking these factors into account. METHODS: This cross-sectional study involved 16,025 samples for sickle cell disease screening in the province of Alicante, Spain, which has a high immigration rate...
2017: PloS One
https://www.readbyqxmd.com/read/28115816/sickle-cell-trait-and-renal-function-in-hispanics-in-the-united-states-the-northern-manhattan-study
#14
Nicole D Dueker, David Della-Morte, Tatjana Rundek, Ralph L Sacco, Susan H Blanton
Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. It is caused by homozygosity for a genetic mutation in HBB; rs334. While the presence of a single mutation (sickle cell trait, SCT) has long been considered a benign trait, recent research suggests that SCT is associated with renal dysfunction, including a decrease in estimated glomerular filtration rate (eGFR) and increased risk of chronic kidney disease (CKD) in African Americans...
January 19, 2017: Ethnicity & Disease
https://www.readbyqxmd.com/read/28102613/congolese-children-with-sickle-cell-trait-may-exhibit-glomerular-hyperfiltration-a-case-control-study
#15
Michel Ntetani Aloni, René Makwala Ngiyulu, Célestin Ndosimao Nsibu, Pépé Mfutu Ekulu, Jean Robert Makulo, Jean-Lambert Gini-Ehungu, Nazaire Mangani Nseka, François Bompeka Lepira
BACKGROUND: The prevalence of sickle cell trait is extremely high in sub-Saharan Africa. Recent studies have reported the impact of sickle cell carriers on renal function. However, data on renal abnormalities in children with sickle cell trait in this part of the world are unknown. In this report, we assess the glomerular function of children with sickle cell trait (SCT). METHODS: A case control study was conducted to assess the glomerular function in 43 Congolese children with sickle cell trait (Hb-AS) matched for age to 65 children with sickle cell anemia in steady state (Hb-SS) and 67 normal controls (Hb-AA)...
January 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#16
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28054978/hemoglobin-based-blood-substitutes-and-the-treatment-of-sickle-cell-disease-more-harm-than-help
#17
REVIEW
Abdu I Alayash
Intense efforts have been made by both industry and academia over the last three decades to produce viable hemoglobin (Hb)-based oxygen carriers (HBOCs), also known as "blood substitutes". Human trials conducted so far by several manufactures in a variety of clinical indications, including trauma, and elective surgeries have failed and no product has gained the Food and Drug Administration approval for human use. Safety concerns due to frequent incidences of hemodynamic, cardiac events, and even death led to the termination of some of these trials...
January 4, 2017: Biomolecules
https://www.readbyqxmd.com/read/28003571/identification-of-%C3%AE-globin-haplotypes-linked-to-sickle-hemoglobin-hb-s-alleles-in-mazandaran-province-iran
#18
Faeghe Aghajani, Mohammad Reza Mahdavi, Mehrnoush Kosaryan, Mehrad Mahdavi, Mohaddese Hamidi, Hossein Jalali
Carrier frequency of the β(S) allele has been reported to be 0.19% in Mazandaran province, northern Iran. Haplotype analysis of the β(S) allele helps trace the origin of its encoded hemoglobin (Hb) variant, Hb S, in a region. The aim of this study was to investigate the haplotypes associated with β(S) alleles in Mazandaran province. Capillary electrophoresis was carried out to detect individuals suspected to have a βS allele(s). DNA analysis (PCR-RFLP) was used for final confirmation. To identify 5\' to 3\' β-globin gene cluster haplotypes associated with β(S) alleles, family linkage analysis was applied...
December 21, 2016: Genes & Genetic Systems
https://www.readbyqxmd.com/read/27856464/association-among-sickle-cell-trait-fitness-and-cardiovascular-risk-factors-in-cardia
#19
Robert I Liem, Cheeling Chan, Thanh-Huyen T Vu, Myriam Fornage, Alexis A Thompson, Kiang Liu, Mercedes R Carnethon
The contribution of sickle cell trait (SCT) to racial disparities in cardiopulmonary fitness is not known, despite concerns that SCT is associated with exertion-related sudden death. We evaluated the association of SCT status with cross-sectional and longitudinal changes in fitness and risk for hypertension, diabetes, and metabolic syndrome over the course of 25 years among 1995 African Americans (56% women, 18-30 years old) in the Coronary Artery Risk Development in Young Adults (CARDIA) study. Overall, the prevalence of SCT was 6...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27813142/citrate-metabolism-in-red-blood-cells-stored-in-additive-solution-3
#20
Angelo D'Alessandro, Travis Nemkov, Tatsuro Yoshida, Aarash Bordbar, Bernhard O Palsson, Kirk C Hansen
BACKGROUND: Red blood cells (RBCs) are thought to have a relatively simple metabolic network compared to other human cell types. Recent proteomics reports challenge the notion that RBCs are mere hemoglobin carriers with limited metabolic activity. Expanding our understanding of RBC metabolism has key implications in many biomedical areas, including transfusion medicine. STUDY DESIGN AND METHODS: In-gel digestion coupled with mass spectrometric analysis proteomics approaches were combined with state-of-the-art tracing experiments by incubating leukofiltered RBCs in additive solution-3 for up to 42 days under blood bank conditions, in presence of (13) C1,2,3 -glucose, 2,2,4,4-d-citrate, and (13) C,(15) N-glutamine...
February 2017: Transfusion
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