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https://www.readbyqxmd.com/read/29724825/deletion-of-ferroportin-in-murine-myeloid-cells-increases-iron-accumulation-and-stimulates-osteoclastogenesis-in-vitro-and-in-vivo
#1
Lei Wang, Bin Fang, Toshifumi Fujiwara, Kimberly Krager, Akshita Gorantla, Chaoyuan Li, Jian Q Feng, Michael L Jennings, Jian Zhou, Nukhet Aykin-Burns, Haibo Zhao
Osteoporosis, osteopenia, and pathological bone fractures are frequent complications of iron-overload conditions such as hereditary hemochromatosis, thalassemia, and sickle cell disease. Moreover, animal models of iron overload have revealed increased bone resorption and decreased bone formation. Although systemic iron overload affects multiple organs and tissues, leading to significant changes on bone modeling and remodeling, the cell autonomous effects of excessive iron on bone cells remain unknown. Here, to elucidate the role of cellular iron homeostasis in osteoclasts, we generated two mouse strains in which solute carrier family 40 member 1 (Slc40a1), a gene encoding ferroportin (FPN), the sole iron exporter in mammalian cells, were specifically deleted in myeloid osteoclast precursors or mature cells...
May 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29666677/should-premarital-screening-for-blood-disorders-be-an-obligatory-measure-in-oman
#2
Amal A Al-Balushi, Budoor Al-Hinai
Due to the high rate of consanguineous marriages in Oman, there is a correspondingly high prevalence of hereditary blood disorders, particularly sickle cell disease and β-thalassaemia. This article proposes the possibility of implementing mandatory premarital carrier screening for blood disorders in Oman, while giving due consideration to potential social and cultural obstacles. Although the implementation of such legislation would require collaboration between different sectors and may negatively affect the autonomy of certain individuals, mandatory premarital screening would help to alleviate the burden of hereditary blood disorders on the national healthcare system, as well as reduce avoidable suffering among carriers and their families...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29660907/pulse-wave-velocity-is-lower-in-trained-than-in-untrained-sickle-cell-trait-carriers
#3
Valentin Ouédraogo, Philippe Connes, Julien Tripette, Arnaud Jean Florent Tiendrébéogo, Abdou Khadir Sow, Mor Diaw, Moussa Seck, Mountaga Diop, Magid Hallab, Rhonda Belue, Abdoulaye Samb, Abdoulaye Ba, Georges Lefthériotis
BACKGROUND: Sickle cell trait (SCT) is a benign condition of sickle cell disease. Nevertheless, previous reports showed that SCT carriers have increased blood viscosity and decreased vascular reactivity compared to non-SCT carrier. The benefit of regular exercise on vascular function has been well documented in the general population but no study focused on the SCT population. PURPOSE: The aim of our study was to compare arterial stiffness and blood viscosity between trained and untrained SCT carriers, as well as a group of untrained non-SCT...
April 13, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29574538/identifying-factors-underlying-the-decision-for-sickle-cell-carrier-screening-among-african-americans-within-middle-reproductive-age
#4
Tilicia L Mayo-Gamble, Susan E Middlestadt, Hsien-Chang Lin, Jennifer Cunningham-Erves, Priscilla Barnes, Pamela Braboy Jackson
Guidelines recommend that African Americans know their sickle cell trait status to inform reproductive health decisions. Few studies have applied a behavioral theory to identify factors associated with sickle cell trait screening to inform intervention targets to increase this behavior. We applied a Sickle Cell Trait Screening Framework to identify factors associated with African Americans' intention to ask for sickle cell trait screening. Participants (N = 300), ages 18 to 35, completed a cross-sectional survey...
March 24, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29537064/preconception-risk-assessment-for-thalassaemia-sickle-cell-disease-cystic-fibrosis-and-tay-sachs-disease
#5
REVIEW
Norita Hussein, Stephen F Weng, Joe Kai, Jos Kleijnen, Nadeem Qureshi
BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting...
March 14, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29533092/inherited-blood-disorders-genetic-risk-and-global-public-health-framing-birth-defects-as-preventable-in-india
#6
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
https://www.readbyqxmd.com/read/29526279/whole-genome-sequence-based-haplotypes-reveal-single-origin-of-the-sickle-allele-during-the-holocene-wet-phase
#7
Daniel Shriner, Charles N Rotimi
Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the sickle mutation by using whole-genome-sequence data. We identified 156 carriers from the 1000 Genomes Project, the African Genome Variation Project, and Qatar...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29486174/antibody-responses-to-p-falciparum-apical-membrane-antigen-1-ama-1-in-relation-to-haemoglobin-s-hbs-hbc-g6pd-and-abo-blood-groups-among-fulani-and-masaleit-living-in-western-sudan
#8
Amre Nasr, Ayman M Saleh, Muna Eltoum, Amir Abushouk, Anhar Hamza, Ahmad Aljada, Mohamed E El-Toum, Yousif A Abu-Zeid, Gamal Allam, Gehad ElGhazali
Fulani and Masaleit are two sympatric ethnic groups in western Sudan who are characterised by marked differences in susceptibility to Plasmodium falciparum malaria. It has been demonstrated that Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Sickle cell trait HbAS carriers are protected from the most severe forms of malaria. This study aimed to investigate a set of specific IgG subclasses against P. falciparum Apical Membrane Antigen 1 (AMA-1 3D7), haemoglobin variants and (G6PD) in association with malaria susceptibility among Fulani ethnic group compared to sympatric ethnic group living in Western Sudan...
June 2018: Acta Tropica
https://www.readbyqxmd.com/read/29383950/hemoglobin-a-2-hba-2-has-a-measure-of-unreliability-in-diagnosing-%C3%AE-thalassemia-trait-%C3%AE-tt
#9
Amani M Al-Amodi, Neda Z Ghanem, Sumayh A Aldakeel, Lubna Ibrahim Al Asoom, Nazish Rafique Ahmed, Noor B Almandil, Zaki A Naserullah, Sana Al-Jarrash, Mohammed Shakil Akhtar, Sayed AbdulAzeez, Amein K Al-Ali, J Francis Borgio
INTRODUCTION: Detection of β-thalassemia trait or carriers (β-TT) depends significantly on an increase in Hemoglobin A2 (HbA2 ) levels, which is found at low levels (<3%) in normal healthy individuals and elevated levels (≥3.5%) in β-TT individuals. The study was designed to evaluate the reliability of the diagnostic parameter HbA2 in the differentiation of β-TT and non-β-TT in Saudis. METHODS: The widely used high performance liquid chromatography (Variant II Bio-Rad) was used to measure HbA2 levels in blood...
May 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29365316/manipulating-hemoglobin-oxygenation-using-silica-nanoparticles-a-novel-prospect-for-artificial-oxygen-carriers
#10
Stéphanie Devineau, Laurent Kiger, Frédéric Galacteros, Véronique Baudin-Creuza, Michael Marden, Jean Philippe Renault, Serge Pin
Recently, nanoparticles have attracted much attention as new scaffolds for hemoglobin-based oxygen carriers (HBOCs). Indeed, the development of bionanotechnology paves the way for the rational design of blood substitutes, providing that the interaction between the nanoparticles and hemoglobin at a molecular scale and its effect on the oxygenation properties of hemoglobin are finely controlled. Here, we show that human hemoglobin has a high affinity for silica nanoparticles, leading to the adsorption of hemoglobin tetramers on the surface...
January 23, 2018: Blood Advances
https://www.readbyqxmd.com/read/29345446/the-first-south-american-case-of-pre-implantation-genetic-diagnosis-to-select-compatible-embryo-for-cord-blood-transplantation-as-treatment-for-sickle-cell-anemia
#11
Ciro D Martinhago, Kalina Rn Endo, Mariana A Oliveira, Alex Mm Dias, Gislaine S Pereira, Augusto M Azzolini, Paula Rq Estrada, Caio G Bruzaca, Ana Carolina N Martinhago
Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage...
January 18, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29291201/sickle-cell-and-alpha-thalassemia-traits-resulting-in-non-atherosclerotic-myocardial-infarction-beyond-coincidence
#12
Lee S Nguyen, Alban Redheuil, Olivier Mangin, Joe-Elie Salem
Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease. We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman, carrier of the alpha-thalassemia trait (homozygous deletion of locus -3.7) combined with sickle cell trait. While the patient was included as healthy volunteer for a metabolic study, we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction. Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0...
December 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29233055/universal-screening-program-in-pregnant-women-and-newborns-at-risk-for-sickle-cell-disease-first-report-from-northern-italy
#13
Mariachiara Lodi, Elena Bigi, Giovanni Palazzi, Lara Vecchi, Riccardo Morandi, Monica Setti, Silvana Borsari, Giuliano Bergonzini, Lorenzo Iughetti, Donatella Venturelli
The implementation of screening programs for early detection of patients with sickle cell disease has become necessary in Italy as a result of the high rate of migration from areas with a high prevalence of the disease (Sub-Saharan Africa, Middle East and the Balkans). Following a pilot study performed in the province of Modena, Italy in 2011-2013, an official screening program was established on May 31 2014 for all pregnant women, free-of-charge for the family according to the National Guidelines for Physiological Pregnancy...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#14
Rim B Nefissi, Faida Ouali, Taieb Massaoud, Nasreddine Gritli
BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients. METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29127677/current-standards-of-care-and-long-term-outcomes-for-thalassemia-and-sickle-cell-disease
#15
Satheesh Chonat, Charles T Quinn
Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127675/clinical-features-of-%C3%AE-thalassemia-and-sickle-cell-disease
#16
Patrick T McGann, Alecia C Nero, Russell E Ware
Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5-7% of the world's population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29076161/use-of-the-blood-substitute-hboc-201-in-critically-ill-patients-during-sickle-crisis-a-three-case-series
#17
Jonathan M Davis, Nura El-Haj, Nimish N Shah, Garry Schwartz, Margaret Block, James Wall, Mark Tidswell, Ernest DiNino
BACKGROUND: Red blood cell (RBC) transfusion is an important treatment modality during severe sickle cell crisis (SCC). SCC patients who refuse, or cannot accept, RBCs present a unique challenge. Acellular hemoglobin (Hb)-based oxygen carriers (HBOCs) might be an alternative for critically ill patients in SCC with multiorgan failure due to life-threatening anemia. HBOC-201 (HbO2 Therapeutics) has been administered to more than 800 anemic patients in 22 clinical trials, but use of any HBOCs in critically ill sickle cell patients with organ failure is exceedingly rare...
January 2018: Transfusion
https://www.readbyqxmd.com/read/28993503/-myh9-e1841k-mutation-augments-proteinuria-and-podocyte-injury-and-migration
#18
Sylvia Cechova, Fan Dong, Fang Chan, Michael J Kelley, Phillip Ruiz, Thu H Le
Intronic variants of the MYH9 gene that encodes the nonmuscle myosin heavy chain IIA are associated with diabetic nephropathy in European Americans and with sickle cell disease-associated nephropathy. However, the causal functional variants of MYH9 have remained elusive. Rare missense mutations in MYH9 cause macrothrombocytopenia and are occasionally associated with development of nephropathy. The E1841K mutation is among the common MYH9 missense mutations and has been associated with nephropathy in some carriers...
January 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28980104/experiences-of-a-high-risk-population-with-prenatal-hemoglobinopathy-carrier-screening-in-a-primary-care-setting-a-qualitative-study
#19
Kim C A Holtkamp, Phillis Lakeman, Hind Hader, Suze M J P Jans, Maria Hoenderdos, Henna A M Playfair, Martina C Cornel, Marjolein Peters, Lidewij Henneman
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive an offer of HbP carrier screening by their midwife. Semi-structured interviews (n = 26) were conducted with pregnant women at risk of being a HbP carrier, and whom were offered screening at their booking appointment in one of two midwifery practices in Amsterdam...
October 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28930919/2017-military-supplement-mini-review-perfluorocarbons-oxygen-transport-and-microcirculation-in-low-flow-states-in-vivo-and-in-vitro-studies
#20
Ivo P Torres Filho
The in vivo study of microvascular oxygen transport requires accurate and challenging measurements of several mass transfer parameters. Although recommended, blood flow and oxygenation are typically not measured in many studies where treatments for ischemia are tested. Therefore, the aim of this communication is to briefly review cardinal aspects of oxygen transport, and the effects of perfluorocarbon treatment on blood flow and oxygenation based mostly on studies performed in our laboratory. Since physiologically relevant events in oxygen transport take place at the microvascular level, we implemented the phosphorescence quenching technique coupled with non-invasive intravital videomicroscopy for quantitative evaluation of these events in vivo...
September 19, 2017: Shock
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