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sickle cell trait

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https://www.readbyqxmd.com/read/28441316/hemolysis-following-intraoperative-cell-salvage-replacement-in-a-scoliosis-patient-with-sickle-cell-trait-a-case-report
#1
Daniel You, Alejandro Peiro Garcia, Fabio Ferri-de-Barros, David Parsons
STUDY DESIGN: Case Report. OBJECTIVE: To describe a novel presentation of acute renal failure associated with hemolysis following intraoperative cell salvage (ICS) in a neuromuscular scoliosis patient with sickle cell trait (SCT). SUMMARY OF BACKGROUND DATA: Hemolysis associated acute renal failure following ICS in patients with SCT has not been previously reported. Sickle cell disease is regarded as a relative contraindication for ICS due to the risk of red blood cell sickling in the hypoxic cell saver reservoir...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28377104/neurological-complications-in-subjects-with-sickle-cell-disease-or-trait-an-observational-study-from-mali
#2
Guida Landouré, Lassana Cissé, Boubacar A Touré, Abdoulaye Yalcouyé, Toumany Coulibaly, Mamadou Karambé, Adama S Sissoko, Thomas Coulibaly, Ambroise Wonkam, Cheick O Guinto
No abstract text is available yet for this article.
April 1, 2017: Global Heart
https://www.readbyqxmd.com/read/28366943/epidemiology-sickle-cell-trait-increases-esrd-risk
#3
Shimona Starling
No abstract text is available yet for this article.
May 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28362936/high-frequency-of-blackwater-fever-among-children-presenting-to-hospital-with-severe-febrile-illnesses-in-eastern-uganda
#4
Peter Olupot-Olupot, Charles Engoru, Sophie Uyoga, Rita Muhindo, Alex Macharia, Sarah Kiguli, Robert O Opoka, Samuel Akech, Carolyne Ndila, Richard Nyeko, George Mtove, Julius Nteziyaremye, Martin Chebet, Elizabeth C George, Abdel G Babiker, Diana M Gibb, Thomas N Williams, Kathryn Maitland
Background: In the Fluid Expansion as a Supportive Treatment (FEAST) trial, an unexpectedly high proportion of participants from eastern Uganda presented with blackwater fever (BWF). Methods: We describe the prevalence and outcome of BWF among trial participants and compare the prevalence of 3 malaria-protective red blood cell polymorphisms in BWF cases vs both trial (non-BWF) and population controls. Results: Of 3170 trial participants, 394 (12...
April 1, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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
#5
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/28341086/recurrent-priapism-gone-wrong-st-elevation-myocardial-infarction-and-cardiogenic-shock-after-penile-corporal-phenylephrine-irrigation
#6
S Tyler Constantine, Anand Gopalsami, Gregg Helland
BACKGROUND: Recurrent priapism secondary to sickle cell trait in an African-American male has been reported in the literature. A common treatment for these low-flow priapism cases is aspiration and injection of the corpus cavernosum with a sympathomimetic agent. We report a rare complication not described previously in the literature of ST-elevation myocardial infarction (STEMI) and cardiogenic shock in a 29-year-old male with sickle cell trait undergoing a routine detumescence procedure...
March 21, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28293411/a-strange-manifestation-of-malaria-in-a-native-nigerian-boy
#7
Paola Magro, Ilaria Izzo, Barbara Saccani, Salvatore Casari, Silvio Caligaris, Lina Rachele Tomasoni, Alberto Matteelli, Annamaria Lombardi, Antonella Meini, Francesco Castelli
The protective role of Sickle Cell Trait (SCT) in malaria endemic areas has been proved, and prevalence of HbS gene in malaria endemic areas is high. Splenic infarction is a well-known complication of SCT, while the association with malaria is considered rare. A Nigerian boy was admitted to our ward after returning from his country of origin, for P. falciparum malaria. He underwent abdominal ultrasound for upper right abdominal pain, showing cholecystitis and multiple splenic lesions suggestive of abscesses...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28290965/sickle-cell-trait-prevalence-among-u-s-military-service-members-1992-2012
#8
David W Niebuhr, Ligong Chen, Stephanie Shao, Jonathan Goldsmith, Celia Byrne, Darrell E Singer
BACKGROUND: Population-based estimates of sickle cell trait (SCT) prevalence in the U.S. military across services and over time are lacking. METHODS: SCT prevalence by service, race/ethnicity, and gender in 5-year time intervals was estimated using demographic, ambulatory, and hospital SCT encounter (International Classification of Diseases, 9th Revision, Clinical Modification 282.5) data for active duty, enlisted between 1992 and 2012 and limited SCT laboratory results...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28280727/existence-of-hbf-enhancer-haplotypes-at-hbs1l-myb-intergenic-region-in-transfusion-dependent-saudi-%C3%AE-thalassemia-patients
#9
Cyril Cyrus, Chittibabu Vatte, J Francis Borgio, Abdullah Al-Rubaish, Shahanas Chathoth, Zaki A Nasserullah, Sana Al Jarrash, Ahmed Sulaiman, Hatem Qutub, Hassan Alsaleem, Alhusain J Alzahrani, Martin H Steinberg, Amein K Al Ali
Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28280138/sickle-cell-trait-and-the-risk-of-esrd-in-blacks
#10
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/28277026/-it-means-everyone-should-know-their-status-exploring-lay-conceptions-of-sickle-cell-trait-and-sickle-cell-trait-screening-among-african-americans-within-middle-reproductive-age
#11
Tilicia L Mayo-Gamble, Priscilla A Barnes, Jennifer Cunningham Erves, Susan E Middlestadt, Hsien-Chang Lin
OBJECTIVE: This study examined the meaning of sickle cell trait and sickle cell trait screening from the lay perspective of African Americans. DESIGN AND METHODS: African Americans (N = 300), ages 18-35 and unaware of their sickle cell trait status, completed two open-ended questions from a larger survey. One question asked for their understanding of sickle cell trait; the other asked for their understanding of sickle cell trait screening. Content analysis occurred in two phases: (1) In vivo and holistic coding; and (2) focused coding...
February 21, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28259220/renal-medullary-carcinoma-and-sickle-cell-trait-a-push-for-early-diagnosis-and-intervention-report-of-two-cases
#12
Spencer Alexander Carter, Anna N Walker
Renal medullary carcinoma (RMC) is a rare but highly aggressive neoplasm that primarily affects young African Americans with sickle cell trait. Most patients present with macroscopic hematuria and have metastases at diagnosis. Chemotherapy, biologics directed against the more common renal cell carcinomas and radiation have all shown limited efficacy in treating patients with advanced RMC. We report two patients with RMC. Both had Stage IV disease. One underwent radical nephrectomy followed by radiation and biologic drug therapy but died five months later; the other underwent multiple cycles of chemotherapy plus anti-angiogenesis treatment but died 15 months after diagnosis...
April 2017: Journal of the National Medical Association
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#13
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/28228042/haemoglobin-f-a2-and-s-levels-in-subjects-with-or-without-sickle-cell-trait-in-south-eastern-gabon
#14
Landry-Erik Mombo, Gaël Mabioko-Mbembo, Roland-Fabrice Kassa-Kassa, Emmanuel Ontsitsagui, Statiana Mboui-Ondo, Leatitia Nzé-Kamsi, Dieudonné Nkoghé, Jacques Elion
BACKGROUND: Infant mortality due to sickle cell disease in sub-Saharan Africa is high, necessitating a better understanding of the modulating factors of the disease in this region. METHODS: We assessed the hereditary persistence of foetal haemoglobin and α-thalassemia. We diagnosed 787 subjects, with or without sickle cell trait, by capillary electrophoresis in the Medical Diagnostic Laboratory of the CIRMF (Franceville, Gabon). RESULTS: Heterocellular and pancellular forms of hereditary persistence of foetal haemoglobin occurred at low rates of 10...
February 23, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28212878/evaluation-of-macular-vascular-abnormalities-identified-by-optical-coherence-tomography-angiography-in-sickle-cell-disease
#15
Ian C Han, Mongkol Tadarati, Katia D Pacheco, Adrienne W Scott
PURPOSE: To evaluate macular vascular flow abnormalities identified by optical coherence tomography angiography (OCT-A) in patients with various sickle cell genotypes. DESIGN: Prospective, observational case series. METHODS: This is a single institution case series of adult patients with various sickle cell genotypes. All patients underwent macular OCT-A (Avanti RTVue XR, Optovue Inc, Fremont, CA). Images were analyzed qualitatively for areas of flow loss and quantitatively for measures of foveal avascular area, parafoveal flow, and vascular density...
February 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28210918/nutcracker-syndrome-and-sickle-cell-trait-a-perfect-storm-for-hematuria
#16
Amier Ahmad, Samuel K McElwee, Ryan R Kraemer
We describe the case of a 27-year-old woman with a history of sickle cell trait (SCT) who presented with several months of hematuria and was found to have nutcracker syndrome (NCS). While SCT is a common cause of hematuria resulting from renal papillary necrosis, our patient had concomitant abdominal pain and anemia, prompting further evaluation and the subsequent diagnosis of NCS. Interestingly, the anoxia in the left renal vein from NCS predisposes patients with SCT to sickling. Our case highlights key clinical features of both NCS and SCT and the relationship between the two disease processes...
February 16, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28203160/renal-medullary-carcinoma-with-an-aggressive-clinical-course-a-case-report-and-review-of-the-literature
#17
Madhumati R Kalavar, Sami Ali, Damoun Safarpour, Saroj Davi Kunnakkat
Renal medullary carcinoma (RMC) is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with African descent and sickle cell hemoglobinopathies and most specifically sickle cell trait. Due to its aggressive nature, most cases have metastasis or local invasion at the time of diagnosis. Prognosis is extremely poor with survival less than 1 year after diagnosis. Here we present a case of metastatic RMC in a 29-year-old African female. Despite chemotherapy with cisplatin, gemcitabine, and paclitaxel, and initial shrinkage of the tumor, the patient died 5 months after diagnosis...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#18
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28181950/clinicopathologic-and-molecular-pathology-of-collecting-duct-carcinoma-and-related-renal-cell-carcinomas
#19
REVIEW
An Na Seo, Ghilsuk Yoon, Jae Y Ro
Collecting duct carcinoma (CDC) and related tumors [ie, renal medullary carcinoma (RMC)] are rare types of highly aggressive renal cell carcinomas (RCC) with poor prognosis. Because of the rarity and diagnostic uncertainty of them, their molecular pathology and significance have not yet been fully elucidated. CDC, RMC, fumarate hydratase-deficient RCC (including hereditary leiomyomatosis and RCC-associated RCC HLRCC-RCC), and recently reported anaplastic lymphoma kinase (ALK)-rearrangement RCC have significant morphologic overlaps, but they are separately distinct entities having different molecular pathway and clinical settings...
March 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28170479/association-of-sickle-cell-trait-with-hemoglobin-a1c-in-african-americans
#20
Mary E Lacy, Gregory A Wellenius, Anne E Sumner, Adolfo Correa, Mercedes R Carnethon, Robert I Liem, James G Wilson, David B Sacks, David R Jacobs, April P Carson, Xi Luo, Annie Gjelsvik, Alexander P Reiner, Rakhi P Naik, Simin Liu, Solomon K Musani, Charles B Eaton, Wen-Chih Wu
Importance: Hemoglobin A1c (HbA1c) reflects past glucose concentrations, but this relationship may differ between those with sickle cell trait (SCT) and those without it. Objective: To evaluate the association between SCT and HbA1c for given levels of fasting or 2-hour glucose levels among African Americans. Design, Setting, and Participants: Retrospective cohort study using data collected from 7938 participants in 2 community-based cohorts, the Coronary Artery Risk Development in Young Adults (CARDIA) study and the Jackson Heart Study (JHS)...
February 7, 2017: JAMA: the Journal of the American Medical Association
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