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https://www.readbyqxmd.com/read/28093814/management-of-sickle-cell-disease-in-patients-undergoing-cardiac-surgery
#1
REVIEW
Todd C Crawford, Michael V Carter, Rina K Patel, Alejandro Suarez-Pierre, Sophie Z Lin, Jonathan Trent Magruder, Joshua C Grimm, Duke E Cameron, William A Baumgartner, Kaushik Mandal
Sickle cell disease is a life-limiting inherited hemoglobinopathy that poses inherent risk for surgical complications following cardiac operations. In this review, we discuss preoperative considerations, intraoperative decision-making, and postoperative strategies to optimize the care of a patient with sickle cell disease undergoing cardiac surgery.
January 16, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28092353/non-myeloablative-conditioning-for-second-hematopoietic-cell-transplantation-for-graft-failure-in-patients-with-non-malignant-disorders-a-prospective-study-and-review-of-the-literature
#2
K Mallhi, P J Orchard, W P Miller, Q Cao, J Tolar, T C Lund
Allogeneic hematopoietic cell transplantation (HCT) effectively treats several non-malignant disorders such as selected lysosomal disorders, cerebral adrenoleukodystrophy and hemoglobinopathies. However, rates of graft failure (GF) in non-malignant populations exceed those of patients with malignant indications for HCT. Salvage conditioning regimens and outcomes for second HCT for GF vary immensely in the literature. We report 17 consecutive pediatric patients with non-malignant disorders who underwent a second allogenic HCT for GF using a non-myeloablative, low-dose busulfan-based regimen...
January 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28057606/diagnostic-approach-to-hemoglobins-with-high-oxygen-affinity-experience-from-france-and-belgium-and-review-of-the-literature
#3
Corentin Orvain, Philippe Joly, Serge Pissard, Stéphanie Badiou, Catherine Badens, Nathalie Bonello-Palot, Nathalie Couque, Béatrice Gulbis, Patricia Aguilar-Martinez
Congenital causes of erythrocytosis are now more easily identified due to the improvement of the molecular characterization of many of them. Among these causes, hemoglobins with high oxygen affinity take a large place. The aim of this work was to reevaluate the diagnostic approach of these disorders. To assess the current practices, we sent a questionnaire to the expert laboratories in the diagnosis of hemoglobinopathies in France and Belgium. In parallel, we gathered the methods used for the diagnosis of the hemoglobins with high oxygen affinity indexed in the international database HbVar...
January 5, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28053695/study-on-hydroxyurea-response-in-hemoglobinopathies-patients-using-genetic-markers-and-liquid-erythroid-cultures
#4
Serena Sclafani, Alice Pecoraro, Veronica Agrigento, Antonio Troia, Rosario Di Maggio, Massimiliano Sacco, Aurelio Maggio, Elena D'Alcamo, Rosalba Di Marzo
Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the treatment of these diseases able to stimulate HbF production but patients' response is highly variable indicating the utility of the identification of pharmacogenomic biomarkers in order to predict pharmacological treatment efficacy. To date few studies to evaluate the role of genetic determinants in HU response have been conducted showing contradictory results...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/28040400/emerging-strategies-of-blood-group-genotyping-for-patients-with-hemoglobinopathies
#5
REVIEW
A Belsito, K Magnussen, C Napoli
Red cell alloimmunization is a serious problem in chronically transfused patients. A number of high-throughput DNA assays have been developed to extend or replace traditional serologic antigen typing. DNA-based typing methods may be easily automated and multiplexed, and provide reliable information on a patient. Molecular genotyping promises to become cheaper, being not dependent on serologic immunoglobulin reagents. Patients with hemoglobinopathies could benefit from receiving extended genomic typing. This could limit post transfusional complications depending on subtle antigenic differences between donors and patients...
December 9, 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28028293/potential-use-of-cord-blood-for-hb-e-hemoglobinopathy-screening-programme-using-capillary-electrophoresis
#6
W A Wan Mohd Saman, R Hassan, S Mohd Yusoff, C A Che Yaakob, N A F Abdullah, S Ghazali, M A R Mohd Radzi, R Bahar
BACKGROUND: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for thalassemia was implemented for early pregnancy or secondary school girls; however many participants do not turn-up and missed the screening test...
December 2016: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28005669/correlation-of-multimodal-imaging-in-sickle-cell-retinopathy
#7
Khalil Ghasemi Falavarjani, Adrienne W Scott, Kang Wang, Ian C Han, Xuejing Chen, Michael Klufas, Jean-Pierre Hubschman, Steven D Schwartz, Srinivas R Sadda, David Sarraf, Irena Tsui
PURPOSE: To correlate macular findings on spectral domain optical coherence tomography (SDOCT) and optical coherence tomography angiography (OCTA) with quantitative ischemic index calculations on ultra-wide-field fluorescein angiography (UWFFA) in patients with sickle cell retinopathy. METHODS: In this retrospective case series, SDOCT, OCTA, and UWFFA images of patients with sickle cell retinopathy were evaluated. Eyes were staged based on the Goldberg classification of proliferative sickle cell retinopathy...
December 2016: Retina
https://www.readbyqxmd.com/read/27982320/allogenic-bone-narrow-transplantation-in-sickle-cell-diseases
#8
Belinda Pinto Simões, Fabiano Pieroni, Thalita Costa, George Navarro Barros, Guilherme Darrigo, Carlos Settani Grecco, Juliana Elias Bernardes, Daniela Moraes, Ana Beatriz Lima Stracieri, Renato Cunha, Maria Carolina Rodrigues
Sickle-cell diseases are the most common inherited hemoglobinopathies worldwide. Improvement in survival has been seen in the last decades with the introduction of careful screening and prevention of complications and the introduction of hydroxyurea. Stem-cell transplantation is currently the only curative option for these patients and has been indicated for patients with neurological events, repeated vaso-occlusive crisis, any organ damage or presence of red blood cell antibodies. Related bone-marrow or cord-blood transplant has shown an overall survival of more than 90% with a disease-free survival of 90% in 1,000 patients transplanted in the last decades...
October 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27981786/diagnosis-of-common-hemoglobinopathies-among-south-east-asian-population-using-capillary-isoelectric-focusing-system
#9
H Srivorakun, G Fucharoen, K Sanchaisuriya, S Fucharoen
INTRODUCTION: We have evaluated an automated capillary isoelectric focusing (cIEF)-based Hb analyzer in diagnosis of hemoglobinopathies commonly found among South East Asian population. METHODS: Study was performed on a cohort of 665 adult Thai subjects and 13 fetal blood specimens obtained at routine thalassemia diagnostic laboratory. Hb analysis was performed using the cIEF system. Thalassemia genotypes were defined by DNA analysis. RESULTS: The system revealed satisfactorily within-run and between-run precision for quantitation of Hb A2 and Hb E (CV: 0...
December 16, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27959850/-regulation-of-the-%C3%AE-globin-gene-family-expression-useful-in-the-search-for-new-therapeutic-targets-for-hemoglobinopathies
#10
Karen G Scheps, Viviana Varela
Different hemoglobin isoforms are expressed during the embryonic, fetal and postnatal stages. They are formed by combination of polypeptide chains synthesized from the α- and β-globin gene clusters. Based on the fact that the presence of high hemoglobin F levels is beneficial in both sickle cell disease and severe thalassemic syndromes, a revision of the regulation of the β-globin cluster expression is proposed, especially regarding the genes encoding the y-globin chains (HBG1 and HBG2). In this review we describe the current knowledge about transcription factors and epigenetic regulators involved in the switches of the β-globin cluster...
2016: Medicina
https://www.readbyqxmd.com/read/27959846/-sickle-cell-syndrome-association-between-hemoglobin-s-and-%C3%AE-thalassemia
#11
Nehuen P Gasparini, Evangelina E Agriello, M J Lorena Zanella, María P Iommi, Juan Maradei, Marisa J Sandoval
Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome...
2016: Medicina
https://www.readbyqxmd.com/read/27900941/the-kidney-in-sickle-hemoglobinopathies%C3%A2
#12
Medha Airy, Garabed Eknoyan
With improvements in the care of patients with sickle hemoglobinopathies, sickle cell disease (SCD) has evolved from a disease that was fatal in childhood into one in which most survive past their 5th decade and some into old age. As a result, the renal complications of sickle hemoglobinopathies, which are age dependent, have emerged as a common and serious complication of SCD. Approximately 14 - 18% of mortality in SCD is attributed to chronic kidney disease (CKD), which develops in 1/3 of individuals with SCD and progresses to end-stage renal disease in 4 - 18% of them...
February 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#13
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27891535/gene-therapy-for-hemoglobin-disorders-a-mini-review
#14
Parul Rai, Punam Malik
Gene therapy by either gene insertion or editing is an exciting curative therapeutic option for monogenic hemoglobin disorders like sickle cell disease and β-thalassemia. The safety and efficacy of gene transfer techniques has markedly improved with the use of lentivirus vectors. The clinical translation of this technology has met with good success, although key limitations include number of engraftable transduced hematopoietic stem cells and adequate transgene expression that results in complete correction of β0 thalassemia major...
2016: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/27891273/orbital-infarction-due-to-sickle-cell-disease-without-orbital-pain
#15
Cameron L McBride, Kim-Binh T Mai, Kartik S Kumar
Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27883199/hepcidin-detects-iron-deficiency-in-sri-lankan-adolescents-with-a-high-burden-of-hemoglobinopathy-a-diagnostic-test-accuracy-study
#16
Katherine Wray, Angela Allen, Emma Evans, Chris Fisher, Anuja Premawardhena, Lakshman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Craig Webster, Andrew E Armitage, Andrew M Prentice, David J Weatherall, Hal Drakesmith, Sant-Rayn Pasricha
Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional study of 7526 secondary schoolchildren across Sri Lanka and analyzed associations between hepcidin and participant characteristics, iron indices, inflammatory markers and hemoglobinopathy states...
November 24, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27879229/the-incidence-of-ototoxicity-in-patients-using-iron-chelators
#17
Serhan Derin, Fatih Mehmet Azık, Yaşar Topal, Hatice Topal, Volkan Karakuş, Petek Uzay Çetinkaya, Murat Şahan, Tansel Erdem Azık, Can Naci Kocabaş
OBJECTIVE: In this study, we aimed to detect the incidences of ototoxicity in patients with hemoglobinopathies taking deferoxamine (DFO), deferiprone, and deferasirox using the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) scale to obtain more objective data. MATERIALS AND METHODS: Fifty-five transfusion-dependent patients were evaluated in this study. The NCI CTCAE scale was used to assess ototoxicity levels. The average ferritin and hemoglobin levels, the type of iron chelator, and the duration of therapy of all the patients were recorded...
November 23, 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27872769/mantle-cell-hyperplasia-of-peripheral-lymph-nodes-as-initial-manifestation-of-sickle-cell-disease
#18
Ahmad Monabbati, Sadat Noori, Akbar Safaei, Mani Ramzi, Seyedsajjad Eghbali, Ali Adib
Sickle cell disease (SCD) is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27853395/animal-models-of-%C3%AE-hemoglobinopathies-utility-and-limitations
#19
REVIEW
Bradley McColl, Jim Vadolas
The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27846660/diabetes-in-patients-with-%C3%A3-thalassemia-or-other-hemoglobinopathies-analysis-from-the-dpv-database
#20
K Warncke, K Konrad, E Kohne, E Hammer, U Ohlenschläger, S Herrlinger, A Jäger, R W Holl
Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry aged<30 years with thalassemia major or other hemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9...
November 2016: Klinische Pädiatrie
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