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sickle cell trait

Kobina Dufu, Josh Lehrer-Graiwer, Eleanor Ramos, Donna Oksenberg
In sickle cell trait (SCT), hemoglobin A (HbA) and S (HbS) are co-expressed in each red blood cell (RBC). While homozygous expression of HbS (HbSS) leads to polymerization and sickling of RBCs resulting in sickle cell disease (SCD) characterized by hemolytic anemia, painful vaso-occlusive episodes and shortened life-span, SCT is considered a benign condition usually with minor or no complications related to sickling. However, physical activities that cause increased tissue oxygen demand, dehydration and/or metabolic acidosis leads to increased HbS polymerization and life-threatening complications including death...
September 28, 2016: Hematology Reports
M Tarasev, M Muchnik, L Light, K Alfano, S Chakraborty
Hemoglobin S (Hb-S) polymerization is the primary event in sickle cell disease causing irreversible damage to red blood cell (RBC) membranes over repeated polymerization cycles. A single polymerization triggered by a hypoxic environment was reported to result in reversibly (upon reoxygenation) decreased RBC deformability and increased mechanical fragility (MF). Individualized responses have not been reported, although RBC fragility can vary significantly even among healthy individuals. This study evaluates individual variability in response to a single hypoxia-induced sickling event, through changes in RBC MF...
September 23, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Patrick Adu, David Larbi Simpong, Godfred Takyi, Richard K D Ephraim
Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy among individuals that donated blood at the Holy Trinity Hospital, Berekum, in the Brong-Ahafo Region, Ghana. Demographic data and other pertinent information were captured using questionnaire...
2016: Advances in Hematology
Mandingha Kosso Etoka-Beka, Francine Ntoumi, Michael Kombo, Julia Deibert, Pierre Poulain, Christevy Vouvoungui, Simon Charles Kobawila, Felix Koukouikila-Koussounda
OBJECTIVES: To investigate the proportion of malaria infection in febrile children consulting a paediatric hospital in Brazzaville, to determine the prevalence of submicroscopic malaria infection, to characterise Plasmodium falciparum infection and compare the prevalence of uncomplicated P. falciparum malaria according to haemoglobin profiles. METHODS: Blood samples were collected from children aged <10 years with an axillary temperature ≥37.5 °C consulting the paediatric ward of Marien Ngouabi Hospital in Brazzaville...
September 27, 2016: Tropical Medicine & International Health: TM & IH
Célia Dechavanne, Ibrahim Sadissou, Aziz Bouraima, Claude Ahouangninou, Roukiyath Amoussa, Jacqueline Milet, Kabirou Moutairou, Achille Massougbodji, Michael Theisen, Edmond J Remarque, David Courtin, Gregory Nuel, Florence Migot-Nabias, André Garcia
To our knowledge, effects of age, placental malaria infection, infections during follow-up, nutritional habits, sickle-cell trait and individual exposure to Anopheles bites were never explored together in a study focusing on the acquisition of malaria antibody responses among infants living in endemic areas.Five hundred and sixty-seven Beninese infants were weekly followed-up from birth to 18 months of age. Immunoglobulin G (IgG), IgG1 and IgG3 specific for 5 malaria antigens were measured every 3 months. A linear mixed model was used to analyze the effect of each variable on the acquisition of antimalarial antibodies in 6-to18-month old infants in univariate and multivariate analyses...
September 27, 2016: Scientific Reports
Holly J Kramer, Adrienne M Stilp, Cathy C Laurie, Alex P Reiner, James Lash, Martha L Daviglus, Sylvia E Rosas, Ana C Ricardo, Bamidele O Tayo, Michael F Flessner, Kathleen F Kerr, Carmen Peralta, Ramon Durazo-Arvizu, Matt Conomos, Timothy Thornton, Jerome Rotter, Kent D Taylor, Jainwen Cai, John Eckfeldt, Han Chen, George Papanicolau, Nora Franceschini
African ancestry alleles may contribute to CKD among Hispanics/Latinos, but whether associations differ by Hispanic/Latino background remains unknown. We examined the association of CKD measures with African ancestry-specific APOL1 alleles that were directly genotyped and sickle cell trait (hemoglobin subunit β gene [HBB] variant) on the basis of imputation in 12,226 adult Hispanics/Latinos grouped according to Caribbean or Mainland background. We also performed an unbiased genome-wide association scan of urine albumin-to-creatinine ratios...
September 20, 2016: Journal of the American Society of Nephrology: JASN
Julio D Duarte, Ankit A Desai, Justin R Sysol, Taimur Abbasi, Amit R Patel, Roberto M Lang, Akash Gupta, Joe G N Garcia, Victor R Gordeuk, Roberto F Machado
BACKGROUND: Diastolic dysfunction is common in sickle cell disease (SCD), and is associated with an increased risk of mortality. However, the molecular pathogenesis underlying this development is poorly understood. The aim of this study was to identify a gene expression profile that is associated with diastolic function in SCD, potentially elucidating molecular mechanisms behind diastolic dysfunction development. METHODS: Diastolic function was measured via echocardiography in 65 patients with SCD from two independent study populations...
2016: PloS One
Amanda R Burnham-Marusich, Chinenye O Ezeanolue, Michael C Obiefune, Wei Yang, Alice Osuji, Amaka G Ogidi, Aaron T Hunt, Dina Patel, Echezona E Ezeanolue
BACKGROUND/AIMS: Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and their male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. METHODS: We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI)...
2016: Public Health Genomics
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...
September 8, 2016: British Journal of Haematology
Xu Zhang, Binal N Shah, Wei Zhang, Santosh L Saraf, Galina Miasnikova, Adelina Sergueeva, Tatiana Ammosova, Xiaomei Niu, Mehdi Nouraie, Sergei Nekhai, Oswaldo Castro, Mark T Gladwin, Josef T Prchal, Joe G N Garcia, Roberto F Machado, Victor R Gordeuk
Blood erythropoietin (EPO) increases primarily to hypoxia. In sickle cell anemia (homozygous HBB(E6V); HbSS), plasma EPO is elevated due to hemolytic anemia-related hypoxia. Hydroxyurea treatment reduces hemolysis and anemia by increasing fetal hemoglobin, which leads to lower hypoxic transcriptional responses in blood mononuclear cells but paradoxically further increases EPO. To investigate this apparent hypoxia-independent EPO regulation, we assessed two sickle cell disease (SCD) cohorts for genetic associations with plasma EPO, by prioritizing 237,079 quantitative trait loci for expression level and/or transcript isoform variations of 12,727 genes derived from SCD blood mononuclear cells...
August 30, 2016: Human Molecular Genetics
John S Gibson, David C Rees
No abstract text is available yet for this article.
September 2016: EBioMedicine
Sayward E Harrison, Christy M Walcott, Tamara D Warner
Sickle cell trait (SCT) places individuals at risk of passing an abnormal hemoglobin gene to biological children and is associated with rare but serious complications. The present study sought to examine knowledge of SCT and awareness of personal trait status among 258 young African American adults. Participants were surveyed regarding demographics, medical history, and sources of sickle cell information before completing a trait knowledge questionnaire. Overall, participants possessed significant misinformation about the condition...
August 22, 2016: Western Journal of Nursing Research
JaeHwang Jung, Lucas E Matemba, KyeoReh Lee, Paul E Kazyoba, Jonghee Yoon, Julius J Massaga, Kyoohyun Kim, Dong-Jin Kim, YongKeun Park
Sickle cell disease (SCD) is common across Sub-Saharan Africa. However, the investigation of SCD in this area has been significantly limited mainly due to the lack of research facilities and skilled personnel. Here, we present optical measurements of individual red blood cells from healthy individuals and individuals with SCD and sickle cell trait in Tanzania using the quantitative phase imaging technique. By employing a quantitative phase imaging unit, an existing microscope in a clinic is transformed into a powerful quantitative phase microscope providing measurements on the morphological, biochemical, and biomechanical properties of individual cells...
2016: Scientific Reports
David O Osei-Hwedieh, Tamir Kanias, Claudette St Croix, Morgan Jessup, Zeyu Xiong, Derek Sinchar, Jonathan Franks, Qinzi Xu, Enrico M Novelli, Jonas T Sertorio, Karin Potoka, Robert J Binder, Swati Basu, Andrea M Belanger, Daniel B Kim-Shapiro, Darrell Triulzi, Janet S Lee, Mark T Gladwin
BACKGROUND: Transfusion of blood at the limits of approved storage time is associated with lower red blood cell (RBC) post-transfusion recovery and hemolysis, which increases plasma cell-free hemoglobin and iron, proposed to induce endothelial dysfunction and impair host defense. There is noted variability among donors in the intrinsic rate of storage changes and RBC post-transfusion recovery, yet genetic determinants that modulate this process are unclear. METHODS: We explore RBC storage stability and post-transfusion recovery in murine models of allogeneic and xenogeneic transfusion using blood from humanized transgenic sickle cell hemizygous mice (Hba(tm1Paz)Hbb(tm1Tow)Tg(HBA-HBBs)41Paz/J) and human donors with a common genetic mutation sickle cell trait (HbAS)...
September 2016: EBioMedicine
Paulo do Val Rezende, Kenia da Silva Costa, Jose Carlos Domingues Junior, Paula Barezani Silveira, André Rolim Belisário, Celia Maria Silva, Marcos Borato Viana
INTRODUCTION: The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort of newborns with hemoglobin SD. METHODS: Isoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping...
July 2016: Revista Brasileira de Hematologia e Hemoterapia
D Alan Nelson, Patricia A Deuster, Robert Carter, Owen T Hill, Vickee L Wolcott, Lianne M Kurina
BACKGROUND: Studies have suggested that sickle cell trait elevates the risks of exertional rhabdomyolysis and death. We conducted a study of sickle cell trait in relation to these outcomes, controlling for known risk factors for exertional rhabdomyolysis, in a large population of active persons who had undergone laboratory tests for hemoglobin AS (HbAS) and who were subject to exertional-injury precautions. METHODS: We used Cox proportional-hazards models to test whether the risks of exertional rhabdomyolysis and death varied according to sickle cell trait status among 47,944 black soldiers who had undergone testing for HbAS and who were on active duty in the U...
August 4, 2016: New England Journal of Medicine
B M Warpe, A V Shrikhande, S V Poflee
BACKGROUND: Until now, trimodal distribution of HbS has been seen by six different studies in the world when associated with alpha-thalassemia with confirmation by corresponding alpha-genotyping studies. The RBC indices reduce as alpha-globin genes reduce in sickle cell trait (SCT) patients, which decreases the extent of intra-vascular sickling and thus betters the clinical course of the patients. This is a pioneer study conducted on Central Indian poor population to use the already proven six studies to screen associated alpha-thalassemia in SCT patients thus, circumventing the much costlier alpha-genotyping studies...
2016: Iranian Journal of Pathology
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)
Taiwo R Kotila
BACKGROUND: Sickle cell trait (SCT) is the heterozygous form of sickle cell disease and expectedly should be a benign state with no complications ascribed to it. There are numerous reports challenging its being a benign condition, though this is controversial. METHODS AND RESULTS: A review of the results of the accompanying investigations done on some of the patients show that beta thalassemia may be responsible for many of the ascribed symptoms and complications...
2016: Acta Haematologica
Majed Al Harbi, Rajiv Khandekar, Igor Kozak, Patrik Schatz
PURPOSE: To determine whether Sickle cell trait (SCT) is associated with an increased severity of diabetic retinopathy. METHODS: This was a single center retrospective study case control study of 100 eyes of 100 patients with diabetes mellitus (DM) with SCT (SCT group) and 100 eyes of 100 age-matched patients with DM without SCT (control group). The main outcome measure was the difference in the prevalence of sight threatening DR [here defined as diabetic macular edema (DME) and/or proliferative diabetic retinopathy (PDR)], between the SCT and control groups...
2016: PloS One
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