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https://www.readbyqxmd.com/read/29346667/the-results-of-hemoglobin-variant-analysis-in-patients-revealing-microcytic-erythrocytosis-on-complete-blood-count
#1
Upasana Joneja, Gene Gulati, Alina Dulau Florea, Jerald Gong
Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders...
January 13, 2018: Laboratory Medicine
https://www.readbyqxmd.com/read/29345507/ovarian-tissue-cryopreservation-in-young-females-through-the-oncofertility-consortium-s-national-physicians-cooperative
#2
Austin G Armstrong, Bruce F Kimler, Brigid M Smith, Teresa K Woodruff, Mary Ellen Pavone, Francesca E Duncan
AIM: To characterize the clinical indications of females (<15 years old) undergoing ovarian tissue cryopreservation (OTC) through the Oncofertility Consortium's National Physicians Cooperative (OC-NPC). PATIENTS & METHODS: The clinical indications of 114 females who underwent OTC were classified, and their incidence was compared with childhood cancer databases. RESULTS: Leukemias/myeloproliferative diseases/myelodysplastic diseases and hemoglobinopathies were the most prevalent oncologic and nononcologic indications for OTC, respectively...
January 18, 2018: Future Oncology
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
#3
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/29343300/association-between-sickle-cell-and-%C3%AE-thalassemia-genes-and-hemoglobin-concentration-and-anemia-in-children-and-non-pregnant-women-in-sierra-leone-ancillary-analysis-of-data-from-sierra-leone-s-2013-national-micronutrient-survey
#4
James P Wirth, Rashid Ansumana, Bradley A Woodruff, Aminata S Koroma, Mary H Hodges
OBJECTIVE: By measuring the associations between the presence of sickle cell and β-thalassemia genes, we assessed the extent to which these hemoglobinopathies contribute to the high prevalence of anemia observed in preschool-aged children and women of reproductive age in Sierra Leone. RESULTS: The prevalence of anemia was statistically significantly higher in children with homozygous sickle cell genes (HbSS) than in children with normal hemoglobin genes (HbAA or HbAC), but there was no difference in anemia prevalence in those with heterozygous sickle cell trait (HbAS or HbSC) compared with those with normal hemoglobin genes...
January 17, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29339270/proceedings-from-the-fourth-haploidentical-stem-cell-transplantation-symposium-haplo2016-san-diego-california-december-1-2016
#5
REVIEW
Monzr Al Malki, Richard Jones, Qing Ma, Dean Lee, Yair Reisner, Jeffrey S Miller, Peter Lang, Suradej Hongeng, Parameswaran Hari, Samuel Strober, Jianhua Yu, Richard Maziarz, Domenico Mavilio, Denis-Claude Roy, Chiara Bonini, Richard E Champlin, Ephraim J Fuchs, Stefan O Ciurea
The resurgence of haploidentical stem cell transplantation (HaploSCT) over the last decade is one of the most important advances in the field of hematopoietic stem cell transplantation (HSCT). The modified platforms of T cell depletion either ex vivo (CD34+ selection, 'mega-dose' of purified CD34+ cells, or selective depletion of T-cells) or newer platforms of in vivo depletion of T cells, with either post-transplant high-dose cyclophosphamide (PTCy) or intensified immune suppression, have contributed to better outcomes, with survival that is similar to HLA-match donor transplantation...
January 12, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29336892/gene-therapy-and-gene-editing-strategies-for-hemoglobinopathies
#6
REVIEW
Maria Rosa Lidonnici, Giuliana Ferrari
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with an integrating lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Studies and safety works demonstrated the potential therapeutic efficacy and safety of this approach, providing the rationale for clinical translation. The outcomes of early clinical trials, although showing promising results, have highlighted the current limitations to a more general application...
January 3, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29327530/splenic-abscess-caused-by-salmonella-typhi-and-co-infection-with-leptospira
#7
Monalisa Sahu, Arvind Kumar, Neeraj Nischal, B G Bharath, Smita Manchanda, Naveet Wig
Splenic abscesses caused by Salmonella typhi are a very rare complication of typhoid fever in this era of use of specific antibiotics. Co-infection with Leptospira in such a patient is even rarer. Clinical diagnosis of splenic abscess caused by Salmonella is difficult owing to its rarity, being insidious in onset and having nonspecific clinical presentation. Splenic abscesses are potentially fatal complication of typhoid fever. In most of these patients, hemoglobinopathies or some other underlying immunocompromised state is usually present...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29319890/two-novel-unstable-hemoglobin-variants-due-to-in-frame-deletions-of-key-amino-acids-in-the-%C3%AE-globin-chain
#8
Karen Gabriela Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela, María Silvina Fornasari
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to β-globin variants in pediatric patients in Argentina. The HBB gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed...
January 10, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29313430/the-assessment-and-sustainable-management-of-sickle-cell-disease-in-the-indigenous-tharu-population-of-nepal
#9
Miles Marchand, Carson Gill, Armaan K Malhotra, Carolyn Bell, Eric Busto, Monica D McKeown, Abhiram Cherukupalli, Jordan Yeo, Brendan Arnold, Videsh Kapoor
Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited and often inaccessible for Tharu individuals suffering from sickle cell disease. We conducted a large-scale screening effort to estimate the prevalence of Hb S (HBB: c.20A>T) among the Tharu population and delivered community-based education sessions to increase sickle cell disease awareness...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29309300/reappraisal-of-morphologic-differences-between-renal-medullary-carcinoma-collecting-duct-carcinoma-and-fumarate-hydratase-deficient-renal-cell-carcinoma
#10
Chisato Ohe, Steven C Smith, Deepika Sirohi, Mukul Divatia, Mariza de Peralta-Venturina, Gladell P Paner, Abbas Agaimy, Mitual B Amin, Pedram Argani, Ying-Bei Chen, Liang Cheng, Maurizio Colecchia, Eva Compérat, Isabela Werneck da Cunha, Jonathan I Epstein, Anthony J Gill, Ondřej Hes, Michelle S Hirsch, Wolfram Jochum, Lakshmi P Kunju, Fiona Maclean, Cristina Magi-Galluzzi, Jesse K McKenney, Rohit Mehra, Gabriella Nesi, Adeboye O Osunkoya, Maria M Picken, Priya Rao, Victor E Reuter, Paulo Guilherme de Oliveira Salles, Luciana Schultz, Satish K Tickoo, Scott A Tomlins, Kiril Trpkov, Mahul B Amin
Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29296711/klf1-directly-activates-expression-of-the-novel-fetal-globin-repressor-zbtb7a-lrf-in-erythroid-cells
#11
Laura J Norton, Alister P W Funnell, Jon Burdach, Beeke Wienert, Ryo Kurita, Yukio Nakamura, Sjaak Philipsen, Richard C M Pearson, Kate G R Quinlan, Merlin Crossley
Genes encoding the human β-like hemoglobin proteins undergo a developmental switch from fetal γ-globin to adult β-globin expression around the time of birth. β-hemoglobinopathies, such as sickle-cell disease and β-thalassemia, result from mutations affecting the adult β-globin gene. The only treatment options currently available carry significant adverse effects. Analyses of heritable variations in fetal hemoglobin (HbF) levels have provided evidence that reactivation of the silenced fetal γ-globin genes in adult erythroid cells is a promising therapy...
April 25, 2017: Blood Advances
https://www.readbyqxmd.com/read/29276718/a-nonhuman-primate-transplantation-model-to-evaluate-hematopoietic-stem-cell-gene-editing-strategies-for-%C3%AE-hemoglobinopathies
#12
Olivier Humbert, Christopher W Peterson, Zachary K Norgaard, Stefan Radtke, Hans-Peter Kiem
Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation model to evaluate hematopoietic stem cell (HSC)-based gene editing strategies aimed at reactivating HbF. We first characterized the transient HbF induction to autologous HSC transplantation in pigtailed macaques, which was comparable in duration and amplitude to that of human patients...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29222291/evolving-treatment-paradigms-in-sickle-cell-disease
#13
REVIEW
Ramasamy Jagadeeswaran, Angela Rivers
Sickle cell disease (SCD) is an inheritable hemoglobinopathy characterized by polymerization of hemoglobin S in red blood cells resulting in chronic hemolytic anemia, vaso-occlusive painful crisis, and multiorgan damage. In SCD, an increased reactive oxygen species (ROS) generation occurs both inside the red blood cells and inside the vascular lumen, which augment hemolysis and cellular adhesion. This review discusses the evolving body of literature on the role of ROS in the pathophysiology of SCD as well as some emerging therapeutic approaches to SCD with a focus on the reduction of ROS...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29221807/ex%C3%A2-vivo-selection-of-transduced-hematopoietic-stem-cells-for-gene-therapy-of-%C3%AE-hemoglobinopathies
#14
Kanit Bhukhai, Edouard de Dreuzy, Marie Giorgi, Charlotte Colomb, Olivier Negre, Maria Denaro, Béatrix Gillet-Legrand, Joëlle Cheuzeville, Anaïs Paulard, Hélène Trebeden-Negre, Suparerk Borwornpinyo, Karine Sii-Felice, Leila Maouche, Julian D Down, Phillippe Leboulch, Emmanuel Payen
Although gene transfer to hematopoietic stem cells (HSCs) has shown therapeutic efficacy in recent trials for several individuals with inherited disorders, transduction incompleteness of the HSC population remains a hurdle to yield a cure for all patients with reasonably low integrated vector numbers. In previous attempts at HSC selection, massive loss of transduced HSCs, contamination with non-transduced cells, or lack of applicability to large cell populations has rendered the procedures out of reach for human applications...
October 24, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29214337/sleep-disordered-breathing-in-patients-with-sickle-cell-disease
#15
REVIEW
Vikram M Raghunathan, Peter L Whitesell, Seah H Lim
Sickle cell disease is one of the most common hereditary hemoglobinopathies worldwide, and its vaso-occlusive and hemolytic crises cause considerable patient morbidity. A growing body of evidence has shown that sleep-disordered breathing, and in particular, obstructive sleep apnea, occurs at high frequency in the sickle cell population, and that there is significant overlap in the underlying pathophysiology of these two conditions. Through a variety of mechanisms including nocturnal hypoxemia and increased oxidative stress, production of pro-inflammatory cytokines, and endothelial dysfunction, sickle cell anemia and sleep-disordered breathing potentiate each other's clinical effects and end-organ complications...
December 6, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29202133/the-accuracy-of-hospital-icd-9-cm-codes-for-determining-sickle-cell-disease-genotype
#16
Angela B Snyder, Peter A Lane, Mei Zhou, Susan T Paulukonis, Mary M Hulihan
Sickle cell disease affects more than 100,000 individuals in the United States, among whom disease severity varies considerably. One factor that influences disease severity is the sickle cell disease genotype. For this reason, clinical prevention and treatment guidelines tend to differentiate between genotypes. However, previous research suggests caution when using a claimsbased determination of sickle cell disease genotype in healthcare quality studies. The objective of this study was to describe the extent of miscoding for the major sickle cell disease genotypes in hospital discharge data...
2017: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/29195085/clinical-and-hematological-profile-in-a-newborn-cohort-with-hemoglobin-sc
#17
Paulo V Rezende, Millane V Santos, Gustavo F Campos, Laura L M Vieira, Maristela B Souza, André R Belisário, Celia M Silva, Marcos B Viana
OBJECTIVES: Hemoglobin SC is the second most common variant of sickle-cell disease worldwide, after hemoglobin SS. The objectives of the study were to describe the clinical and laboratory characteristics of hemoglobin SC disease in children from a newborn screening program and treated at a blood donor center. METHODOLOGY: This study assessed a cohort of 461 infants born between 01/01/1999 and 12/31/2012 and followed-up until 12/31/2014. Clinical events were expressed as rates for 100 patient-years, with 95% confidence intervals...
November 28, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29183229/prevalence-of-sickle-cell-disease-among-grenadian-newborns
#18
Magdalene Antoine, Ketty Lee, Tyhiesia Donald, Yonni Belfon, Ali Drigo, Sharon Polson, Francis Martin, George Mitchell, Maryse Etienne-Julan, Marie-Dominique Hardy-Dessources
Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014-2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia...
January 1, 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/29173101/advancing-global-precision-medicine-an-overview-of-genomic-testing-and-counseling-services-in-malaysia
#19
Angeliki Balasopoulou, Foong-Ming Mooy, Darrol J Baker, Christina Mitropoulou, Efthymios Skoufas, Awang Bulgiba, Theodora Katsila, George P Patrinos
Precision medicine, genomic and diagnostic services are no longer limited to developed countries. This broadening in geography of biomarker applications and omics diagnostics also demands empirical study of implementation, diagnostic testing, and counseling practices in the field. For example, the Malaysian population has large ethnic diversity and high prevalence of genetic disorders such as hemoglobinopathies and metabolic disorders. Increased morbidity and mortality from such diseases have a direct impact on society and health system sustainability and for this, decision-making becomes of outmost importance...
November 27, 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29171316/hbb-c-316-125a-g-and-hbb-c-316-42delc-phenotypic-evaluations-of-two-rare-changes-in-the-second-intron-of-the-hbb-gene
#20
Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Cristina Passarello, Filippo Leto, Giuseppina Calvaruso, Disma Renda, Aurelio Maggio, Antonino Giambona
We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β(+)), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (-C) (β), NM_000518, HBB: c.316-42delC] identified during the screening program for hemoglobinopathies in the resident Sicilian population. The purpose of this study was to evaluate the clinical implication of these rare changes, particularly in coinheritance with known mutations in the globin clusters, in order to conduct an appropriate genetic counseling for at-risk couples...
November 24, 2017: Hemoglobin
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