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https://www.readbyqxmd.com/read/29773497/indications-for-red-cell-transfusions-in-pediatric-patients
#1
REVIEW
Jill M Cholette, Suzie A Noronha, Jerard Seghatchian, Neil Blumberg
Red cell transfusions are amongst the most common therapeutic procedures in seriously ill children, particularly in the inpatient setting. This is despite the fact that there is no evidence base for most clinical settings, with the exception of patients with hemoglobinopathies, particularly thalassemia and sickle cell anemia. Obviously exsanguinating hemorrhage and life threatening anemia are urgent indications for which no other therapeutic approach is currently available. Most transfusions are, however, given prophylactically to prevent the complications of hypoxia or hemodynamic stability, based upon expert opinion and a faith in the oxygen carrying capacity and beneficial hemodynamic properties of transfused red cells...
May 10, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29766024/integrating-hdad5-35-vectors-as-a-new-platform-for-hsc-gene-therapy-of-hemoglobinopathies
#2
Chang Li, Nikoletta Psatha, Hongjie Wang, Manvendra Singh, Himanshu Bhusan Samal, Wenli Zhang, Anja Ehrhardt, Zsuzsanna Izsvák, Thalia Papayannopoulou, André Lieber
We generated an integrating, CD46-targeted, helper-dependent adenovirus HDAd5/35++ vector system for hematopoietic stem cell (HSC) gene therapy. The ∼12-kb transgene cassette included a β-globin locus control region (LCR)/promoter driven human γ-globin gene and an elongation factor alpha-1 (EF1α)-mgmtP140K expression cassette, which allows for drug-controlled increase of γ-globin-expressing erythrocytes. We transduced bone marrow lineage-depleted cells from human CD46-transgenic mice and transplanted them into lethally irradiated recipients...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29761562/comparison-between-capillary-zone-electrophoresis-and-capillary-isoelectric-focusing-for-thalassemia-screening-in-southern-china
#3
Feng Lu, Qingkai Dai, Xia Zhang, Wenjie Zhou, Ju Gao, Ge Zhang
BACKGROUND: Capillary isoelectric focusing is a type of capillary electrophoresis method newly used for thalassemia screening in China. Although the good performance has been proved by several studies, whether it can best suit the special needs of Chinese patients still requires further investigations. METHODS: Comparisons were made between capillary zone electrophoresis method applied on Sebia Minicap and capillary isoelectric focusing method applied on Helena V8 platform E-class on identifying Hb E, Hb CS, Hb H, and Hb Barts for patients from southern China...
May 14, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29761371/tolerability-and-efficacy-of-deferasirox-in-patients-with-transfusional-iron-overload-results-from-a-german-2-year-non-interventional-study
#4
Florian Nolte, Holger Nückel, Burkhard Schmidt, Thomas Geer, Oleg Rubanov, Holger Hebart, Andrea Jarisch, Stefan Albrecht, Christiane Johr, Christiane Schumann, Wolf-Karsten Hofmann
BACKGROUND: Iron overload (IOL) due to repetitive transfusions of packed red blood cells (pRBC) has a major impact on morbidity and mortality in patients with inherited bone marrow failure syndromes and hemoglobinopathies such as thalassemia and sickle cell disease. However, whether IOL influences the outcome of elderly patients with myeloid malignancies is not yet clear. Moreover, clinical trials have reported high drop-out rates during treatment with the oral iron chelator deferasirox (DFX)...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#5
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29742871/the-effect-of-abo-blood-groups-hemoglobinopathy-and-heme-oxygenase-1-polymorphisms-on-malaria-susceptibility-and-severity
#6
Jiraporn Kuesap, Kesara Na-Bangchang
Malaria is one of the most important public health problems in tropical areas on the globe. Several factors are associated with susceptibility to malaria and disease severity, including innate immunity such as blood group, hemoglobinopathy, and heme oxygenase-1 (HO-1) polymorphisms. This study was carried out to investigate association among ABO blood group, thalassemia types and HO-1 polymorphisms in malaria. The malarial blood samples were collected from patients along the Thai-Myanmar border. Determination of ABO blood group, thalassemia variants, and HO-1 polymorphisms were performed using agglutination test, low pressure liquid chromatography and polymerase chain reaction, respectively...
April 2018: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#7
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29737797/thalassemia-and-other-hemoglobinopathies-among-anemic-individuals-in-metro-manila-philippines-and-their-intake-of-iron-supplements
#8
Mario V Capanzana, Ma Angelina L Mirasol, Geoffry Smith, Imelda Angeles-Agdeppa, Leah Perlas, Francisco de Los Reyes, Maria Sofia Amarra
BACKGROUND AND OBJECTIVES: Iron deficiency is the most common cause of anemia worldwide. In Southeast Asia, studies showed that genetic hemoglobin disorders also contribute significantly to the burden of anemia. The study aimed to estimate the proportion of thalassemia and other hemoglobinopathies versus iron deficiency and other causes in a sample of anemic individuals; describe the characteristics of thalassemic subjects in terms of severity of anemia, adequacy of iron stores, and hematological profile; examine the intake of iron supplements among individuals with varying causes of anemia...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29704633/myb-a-regulatory-factor-in-hematopoiesis
#9
REVIEW
Xunde Wang, Nikolaos Angelis, Swee Lay Thein
MYB is a transcription factor which was identified in birds as a viral oncogene (v-MYB). Its cellular counterpart was subsequently isolated as c-MYB which has three functional domains - DNA binding domain, transactivation domain and negative regulatory domain. c-MYB is essential for survival, and deletion of both alleles of the gene results in embryonic death. It is highly expressed in hematopoietic cells, thymus and neural tissue, and required for T and B lymphocyte development and erythroid maturation. Additionally, aberrant MYB expression has been found in numerous solid cancer cells and human leukemia...
April 25, 2018: Gene
https://www.readbyqxmd.com/read/29697146/red-blood-cell-specifications-for-patients-with-hemoglobinopathies-a-systematic-review-and-guideline
#10
REVIEW
Veerle Compernolle, Stella T Chou, Susano Tanael, William Savage, Jo Howard, Cassandra D Josephson, Isaac Odame, Christopher Hogan, Gregory Denomme, Nadine Shehata
BACKGROUND: Red blood cell (RBC) transfusions remain essential in the treatment of patients with sickle cell disease (SCD) and β-thalassemia. Alloimmunization, a well-documented complication of transfusion, increases the risk of delayed hemolytic transfusion reactions, complicates crossmatching and identifying compatible units, and delays provision of transfusions. Guidance is required to optimize the RBC product administered to these patients. STUDY DESIGN AND METHODS: An international, multidisciplinary team conducted a systematic review and developed, following the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, recommendations to assist treating physicians and transfusion specialists in their decision to select RBCs for these patients...
April 26, 2018: Transfusion
https://www.readbyqxmd.com/read/29673144/serum-hepcidin-concentration-in-individuals-with-sickle-cell-anemia-basis-for-the-dietary-recommendation-of-iron
#11
Juliana Omena, Cláudia Dos Santos Cople-Rodrigues, Jessyca Dias do Amaral Cardoso, Andrea Ribeiro Soares, Marcos Kneip Fleury, Flávia Dos Santos Barbosa Brito, Josely Correa Koury, Marta Citelli
Dietary iron requirements in patients with sickle cell disease (SCD) remain unclear. SCD is a neglected hemoglobinopathy characterized by intense erythropoietic activity and anemia. Hepcidin is the hormone mainly responsible for iron homeostasis and intestinal absorption. Intense erythropoietic activity and anemia may reduce hepcidin transcription. By contrast, iron overload and inflammation may induce it. Studies on SCD have not evaluated the role of hepcidin in the presence and absence of iron overload. We aimed to compare serum hepcidin concentrations among individuals with sickle cell anemia, with or without iron overload, and those without the disease...
April 17, 2018: Nutrients
https://www.readbyqxmd.com/read/29653206/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-hct-for-hemoglobinopathy-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric-hct
#12
Shalini Shenoy, Javid Gaziev, Emanuele Angelucci, Allison King, Monica Bhatia, Angela Smith, Dorine Bresters, Anne E Haight, Christine N Duncan, Josu de la Fuente, Andrew C Dietz, K Scott Baker, Michael A Pulsipher, Mark C Walters
Allogeneic hematopoietic cell transplantation (HCT) can halt organ damage and eliminate symptoms in hemoglobin disorders, including sickle cell disease (SCD) and thalassemia major (TM). Managing the residual manifestations of pre-HCT disease complications and the long-term effects of HCT requires systematic monitoring, follow-up, and intervention when indicated. Late complications vary with age and disease status at HCT, and with transplant variables such as preparative regimen, donor source and compatibility, and immune reconstitution...
April 10, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29651217/coinheritance-of-sicilian-%C3%AE-%C3%AE-0-thalassemia-and-two-rare-hemoglobin-variants-a-complex-case-of-hemoglobinopathy
#13
Hajar Eftekhari, Maryam Pilehchian Langroudi, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth...
April 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29626925/genetic-and-epigenetic-mechanisms-of-%C3%AE-globin-gene-switching
#14
REVIEW
O V Iarovaia, A P Kovina, N V Petrova, S V Razin, E S Ioudinkova, Y S Vassetzky, S V Ulianov
Vertebrates have multiple forms of hemoglobin that differ in the composition of their polypeptide chains. During ontogenesis, the composition of these subunits changes. Genes encoding different α- and β-polypeptide chains are located in two multigene clusters on different chromosomes. Each cluster contains several genes that are expressed at different stages of ontogenesis. The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view...
April 2018: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29623225/ischemic-colitis-in-sickle-cell-disease-a-case-report-of-a-diagnostic-challenge
#15
Kyle Geary, Jacob Kibrit
Microvascular occlusion serves as the underlying mechanism for the multitude of clinical manifestations of sickle cell disease, one of the most prevalent hemoglobinopathies worldwide. Recurrent painful episodes are the hallmark of this condition. Abdominal pain attributed to an acute painful episode can be indistinguishable from a separate and/or more serious intra-abdominal disease process, representing a significant diagnostic dilemma for clinicians. Here we present a rare case of ischemic colitis due to vascular occlusion in a 28-year-old man with sickle cell disease...
2018: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/29619482/a-comprehensive-review-of-the-prevalence-of-beta-globin-gene-variations-and-the-co-inheritance-of-related-gene-variants-in-saudi-arabians-with-beta-thalassemia
#16
Mousa A Alaithan, Sayed AbdulAzeez, J Francis Borgio
Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected bybeta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G greater than C) and Cd 39 (C greater than T) are the most prevalent HBB gene variations out of 42 variations...
April 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29616639/sickle-cell-disease-with-an-eruptive-appearance-what-is-your-diagnosis
#17
J Iba Ba, I Nseng Nseng, S Coniquet, J B Boguikouma
Lupus is an autoimmune disease of the connective tissues, relatively frequent in the black population, and with a marked female prevalence. Clinical polymorphisms explain the diverse and varied nature of the clinical forms that are sources of diagnostic aberrations. This disease can be associated with various diseases. Here we report an unusual association with AS hemoglobinopathy.
February 1, 2018: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/29614639/microparticles-in-sickle-cell-disease
#18
Marc Romana, Philippe Connes, Nigel S Key
Several pathophysiological pathways in sickle cell disease (SCD), the most prevalent hemoglobinopathy worldwide, result in activation of circulating blood cells and the release of submicron vesicles, so-called microparticles (MPs). MPs are candidate biomarkers in vascular disease that exhibit functional biological properties. Compared to healthy individuals, higher level of plasma MPs, mostly derived from platelets and red blood cells (RBC), has been repeatedly observed in SCD patients in their steady-state condition...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29610478/natural-regulatory-mutations-elevate-the-fetal-globin-gene-via-disruption-of-bcl11a-or-zbtb7a-binding
#19
Gabriella E Martyn, Beeke Wienert, Lu Yang, Manan Shah, Laura J Norton, Jon Burdach, Ryo Kurita, Yukio Nakamura, Richard C M Pearson, Alister P W Funnell, Kate G R Quinlan, Merlin Crossley
β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. Reactivating the developmentally silenced fetal HBG1 and HBG2 (γ-globin) genes is a therapeutic goal for treating SCD and β-thalassemia1 . Some forms of hereditary persistence of fetal hemoglobin (HPFH), a rare benign condition in which individuals express the γ-globin gene throughout adulthood, are caused by point mutations in the γ-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site...
April 2, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29605204/pulmonary-hypertension-in-chronic-hemolytic-anemias-pathophysiology-and-treatment
#20
REVIEW
Alexandra Haw, Harold I Palevsky
Pulmonary hypertension has emerged as a major cause of morbidity and mortality in patients with hemoglobinopathies and chronic hemolytic anemias. These hematological diseases include - but are not limited to - sickle cell disease (SCD), thalassemia, paroxysmal nocturnal hematuria, and hereditary spherocytosis. Although most studies have been based on the use of echocardiography as a screening tool for pulmonary hypertension as opposed to the gold standard of right heart catheterization for definitive diagnosis, the association between chronic hemolytic anemia and pulmonary hypertension is evident...
April 2018: Respiratory Medicine
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