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Sickle cell carrier

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https://www.readbyqxmd.com/read/28102613/congolese-children-with-sickle-cell-trait-may-exhibit-glomerular-hyperfiltration-a-case-control-study
#1
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
#2
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
#3
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
#4
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/longitudinal-association-among-sickle-cell-trait-fitness-and-cardiovascular-disease-risk-factors-in-african-americans-in-cardia
#5
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 of hypertension, diabetes and metabolic syndrome over 25 years among 1,995 African Americans (56% women, 18 to 30 years old) in the Coronary Artery Risk Development in Young Adults (CARDIA) study. Overall, the prevalence of SCT was 6...
November 16, 2016: Blood
https://www.readbyqxmd.com/read/27813142/citrate-metabolism-in-red-blood-cells-stored-in-additive-solution-3
#6
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...
November 4, 2016: Transfusion
https://www.readbyqxmd.com/read/27763632/managing-sickle-cell-carrier-results-generated-through-newborn-screening-in-ontario-a-precedent-setting-policy-story
#7
Robin Z Hayeems, Charlotte Moore Hepburn, Pranesh Chakraborty, Isaac Odame, Joe Clarke, Fiona A Miller, Adalsteinn D Brown
No abstract text is available yet for this article.
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27712319/sickle-cell-and-cystic-fibrosis-carrier-results
#8
(no author information available yet)
Background Newborn screening (NBS) is used to identify pre-symptomatic babies who carry, or are affected by, genetic or congenital conditions ( UK Newborn Screening Programme Centre 2012 ). In England, parents are required to provide informed consent before their babies are screened.
October 7, 2016: Nursing Children and Young People
https://www.readbyqxmd.com/read/27605462/a-rapid-inexpensive-and-disposable-point-of-care-blood-test-for-sickle-cell-disease-using-novel-highly-specific-monoclonal-antibodies
#9
Charles T Quinn, Mary C Paniagua, Robert K DiNello, Anand Panchal, Mark Geisberg
Sickle cell disease (SCD) is a significant healthcare burden worldwide, but most affected individuals reside in low-resource areas where access to diagnostic testing may be limited. We developed and validated a rapid, inexpensive, disposable diagnostic test, the HemoTypeSC(™) , based on novel monoclonal antibodies (MAbs) that differentiate normal adult haemoglobin (Hb A), sickle haemoglobin (Hb S) and haemoglobin C (Hb C). In competitive enzyme-linked immunosorbent assays, each MAb bound only its target with <0·1% cross-reactivity...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27535451/phenotypic-diversity-of-sickle-cell-disease-in-patients-with-a-double-heterozygosity-for-hb-s-and-hb-d-punjab
#10
Lidiane S Torres, Jéssika V Okumura, Édis Belini-Júnior, Renan G Oliveira, Patrícia P Nascimento, Danilo G H Silva, Clarisse L C Lobo, Sonia M Oliani, Claudia R Bonini-Domingos
Phenotypic heterogeneity for sickle cell disease is associated to several genetic factors such as genotype for sickle cell disease, β-globin gene cluster haplotypes and Hb F levels. The coinheritance of Hb S (HBB: c.20A > T) and Hb D-Punjab (HBB: c.364G > C) results in a double heterozygosity, which constitutes one of the genotypic causes of sickle cell disease. This study aimed to assess the phenotypic diversity of sickle cell disease presented by carriers of the Hb S/Hb D-Punjab genotype and the Bantu [- + - - - -] haplotype...
September 2016: Hemoglobin
https://www.readbyqxmd.com/read/27491942/narrative-as-re-fusion-making-sense-and-value-from-sickle-cell-and-thalassaemia-trait
#11
Simon M Dyson, Waqar Iu Ahmad, Karl Atkin
The moral turn within sociology suggests that we need to be attentive to values and have a rapprochement with philosophy. The study of illness narratives is one area of sociology that has consistently addressed itself to moral domains but has tended to focus on stories of living with genetic or chronic illness per se rather than liminal states such as genetic traits. This article takes the case of genetic carriers within racialized minority groups, namely, those with sickle cell or thalassaemia trait, and takes seriously the notion that their narratives are ethical practices In line with the work of Paul Ricoeur, such storied practices are found to link embodiment, social relationships with significant others and wider socio-cultural and socio-political relations...
August 3, 2016: Health (London)
https://www.readbyqxmd.com/read/27486304/endothelial-nitric-oxide-synthase-786t-c-and-endothelin-1-5665g-t-gene-polymorphisms-as-vascular-dysfunction-risk-factors-in-sickle-cell-anemia
#12
Wendell Vilas-Boas, Camylla V B Figueiredo, Thassila N Pitanga, Magda O S Carvalho, Rayra P Santiago, Sânzio S Santana, Caroline C Guarda, Angela M D Zanette, Bruno A V Cerqueira, Marilda S Gonçalves
Sickle cell anemia (SCA) patients have vascular complications, and polymorphisms in endothelin-1 (ET-1) and endothelial nitric oxide synthase (eNOS) genes were associated with ET-1 and nitric oxide disturbance. We investigate the association of ET-1 5665G>T and eNOS -786T>C polymorphisms with soluble adhesion molecules (sVCAM-1 and sICAM-1), biochemical markers, and medical history. We studied 101 SCA patients; carriers of eNOS minor allele (C) had the highest levels of sVCAM-1, and carriers of ET-1 minor allele had more occurrence of acute chest syndrome (ACS)...
2016: Gene Regulation and Systems Biology
https://www.readbyqxmd.com/read/27384372/burkitt-s-lymphoma-patients-in-northwest-cameroon-have-a-lower-incidence-of-sickle-cell-trait-hb-as-than-healthy-controls
#13
P B Hesseling, D T Jam, D D Palmer, P Wharin, G S Tuh, R Bardin, M Kidd
Contradictory findings have been reported from Africa with regard to the risk of developing Burkitt's lymphoma (BL) in sickle cell trait (AS)carriers. Haemoglobin electrophoresis was performed in 78 BL patients in the Northwest region of Cameroon, and in 78 nearest-neighbourcontrols of the same age, sex and tribe from the same village. AS was confirmed in 4 of 78 (5.13%) BL patients and in 11 of 78 (14.10%)controls (χ2, p=0.052; Fisher's exact, one-tailed, p=0.050). Sickle cell trait carriers had a marginal statistically reduced risk of developing BL...
July 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27353686/fetal-haemoglobin-in-sickle-cell-disease-from-genetic-epidemiology-to-new-therapeutic-strategies
#14
REVIEW
Guillaume Lettre, Daniel E Bauer
Sickle-cell disease affects millions of individuals worldwide, but the global incidence is concentrated in Africa. The burden of sickle-cell disease is expected to continue to rise over the coming decades, adding to stress on the health infrastructures of many countries. Although the molecular cause of sickle-cell disease has been known for more than half a century, treatment options remain greatly limited. Allogeneic haemopoietic stem-cell transplantation is the only existing cure but is limited to specialised clinical centres and remains inaccessible for most patients...
June 18, 2016: Lancet
https://www.readbyqxmd.com/read/27265274/premarital-hemoglobinopathy-screening-in-kocaeli-turkey-a-crowded-industrial-center-on-the-north-coast-of-marmara-sea
#15
Nazan Sarper, Vijdan Şenkal, Fatih Güray, Özcan Şahin, Jülide Bayram
OBJECTIVE: Premarital hemoglobinopathy screening is one of the important procedures of hemoglobinopathy control program. This is the first report about the prevalence of hemoglobinopathies in Kocaeli. METHODS: Study covered screening from July 2005 to the end of the December 2008. Under the auspices of the Ministry of Health and Regional Health authorities blood samples of the couples were obtained during admission to the wedding office. Complete blood counts and hemoglobin variant analysis were performed with automatic counter and high pressure liquid chromotography technique...
June 5, 2009: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27264060/screening-of-hemoglobinopathies-in-kahramanmara%C3%A5-turkey
#16
Güneş T Yüregir, Metin Kılınç, Hasan Ekerbiçer, Neşet Bilaloğlu, Nermin Tekin
Thalassemia and sickle cell anemia are prevalent in southern Turkey. Being in close proximity to Çukurova we screened Kahramanmaraş to assess the prevalence and foci of the diseases. The sample sizes were calculated by EpiInfo 6.0 computer program at 95% confidence level. 1491 subjects aged 2-69 were studied. Hematological parameters were analyzed by an electronic cell counter. Electrophoresis were performed and Hemoglobin A2 and hemoglobin F levels were determined on samples with MCV< 80 fL. The results of Canatan et al...
June 5, 2001: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27263956/public-education-for-the-prevention-of-hemoglobinopathies-a-study-targeting-kocaeli-university-students
#17
Kaan Savaş Gülleroğlu, Nazan Sarper, Ayşe Sevim Gökalp
In addition to premarital screening programs, education of the general population is important in preventing hemoglobinopathies. The aim of the present study was the education of university students. Short questionnaires were applied before and after a prepared lecture. A 20-minute audiovisual education was provided including the clinical characteristics and inheritance of thalassemia and sickle cell anemia (SCA) as well as the importance of carrier screening. The attendance to 42 lectures was low (n= 1348 = 5%)...
December 5, 2007: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27245530/a-possible-heterozygous-advantage-in-muscular-dystrophy
#18
A E H Emery
In certain autosomal recessive disorders there is suggestive evidence that heterozygous carriers may have some selective advantage over normal homozygotes. These include, for example, cystic fibrosis, Tay-Sachs disease and phenylketonuria. The best example so far, however, is that of significant heterozygous advantage in sickle-cell anaemia with increased resistance to falciparum malaria.
June 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27219052/global-carrier-rates-of-rare-inherited-disorders-using-population-exome-sequences
#19
Kohei Fujikura
Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI). I created global maps of carrier rate distribution for 18 recessive disorders in 16 diverse ethnic populations. Out of a total of 161 mutations associated with 18 recessive disorders, I detected 24 mutations in either or both exome studies...
2016: PloS One
https://www.readbyqxmd.com/read/27179442/maternal-and-pregnancy-characteristics-affect-plasma-fibrin-monomer-complexes-and-d-dimer-reference-ranges-for-venous-thromboembolism-in-pregnancy
#20
Karin B Grossman, Roopen Arya, Alberto B Peixoto, Ranjit Akolekar, Ismini Staboulidou, Kypros H Nicolaides
BACKGROUND: D-dimers have a high negative predictive value for excluding venous thromboembolism outside of pregnancy but the use in pregnancy remains controversial. A higher cut-off value has been proposed in pregnancy due to a continuous increase across gestation. Fibrin monomer complexes have been considered as an alternative diagnostic tool for exclusion of venous thromboembolism in pregnancy due to their different behavior. OBJECTIVE: We sought to establish normal values of fibrin monomer complexes and D-dimer as a diagnostic tool for the exclusion of venous thromboembolism in pregnancy and examine the effect of maternal and obstetric factors on these markers...
October 2016: American Journal of Obstetrics and Gynecology
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