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Sickle cell carrier

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
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
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
(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
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
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...
October 3, 2016: Hemoglobin
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)
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
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
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
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
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
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
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
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
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
A S Adewoyin, A E Alagbe, B O Adedokun, N T Idubor
BACKGROUND: Sickle cell disease (SCD) is a major public health problem in Nigeria. Carrier prevalence is about 25% and it affects about 2 - 3% of the Nigerian population. The disease runs a chronic course, characterized by recurrent ill-health, progressive organ damage and shortened life-span. There is a need for SCD control through public education and other preventive measures. OBJECTIVE: This study aimed at assessing the level of knowledge regarding SCD among a cross-section of new tertiary graduates in Nigeria, as well as factors influencing their knowledge...
December 2015: Annals of Ibadan Postgraduate Medicine
Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin
OBJECTIVE: Hemochromatosis is an autosomal recessive disease which is one of the most important reasons of iron overload. Sickle cell disease is a hemoglobinopathy which occurs as a result of a homozygote mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in treatment of this disease. Iron overload as a result of transfusion is important in mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of HFE gene p...
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Kizzy-Clara Cita, Séverine Ferdinand, Philippe Connes, Laura Brudey, Benoit Tressières, Maryse Etienne-Julan, Nathalie Lemonne, Vanessa Tarer, Jacques Elion, Marc Romana
A recent study suggested that adenosine signaling pathway could promote hemolysis in patients with sickle cell anemia (SCA). This signaling pathway involves several gene coding enzymes for which variants have been described. In this study, we analyzed the genotype-phenotype relationships between functional polymorphisms or polymorphisms associated with altered expression of adenosine pathway genes, namely adenosine deaminase (ada; rs73598374), adenosine A2b receptor (adora2b; rs7208480), adenylyl cyclase6 (adcy6; rs3730071, rs3730070, rs7300155), and hemolytic rate in SCA patients...
May 2016: Blood Cells, Molecules & Diseases
Mona Choubey, Hrishikesh Mishra, Khushboo Soni, Pradeep Kumar Patra
INTRODUCTION: Sickle cell disease (SCD) is prevalent in central India including Chhattisgarh. Screening for SCD is being carried out by Government of Chhattisgarh. Electronic Medical Record (EMR) system was developed and implemented in two phases. AIM: Aim was to use informatics techniques and indigenously develop EMR system to improve the care of SCD patients in Chhattisgarh. EMR systems had to be developed to store and manage: i) huge data generated through state wide screening for SCD; ii) clinical data for SCD patients attending the outpatient department (OPD) of institute...
February 2016: Journal of Clinical and Diagnostic Research: JCDR
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