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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
#1
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/29343036/-analysis-of-genotype-and-hematological-phenotype-of-14-patients-with-coinheritance-hk%C3%AE-%C3%AE-and-south-east-deletion-thalassemia
#2
L Y Zhong, F Wang, P S Chen, Y J Xie, J Y Tan, M Liu, B Huang, W B Lin
Objective: To analyze the genotype-phenotype correlations among those thalassemia samples with the presence of -α(3.7,) --(SEA) and normal α(2) alleles on their α-globin gene clusters. Methods: Fourteen patients(including 1fetus, 4 males and 9 females, aged 0- 56 years old)who were suspected diagnosed by hematologic analysis and genetic testing among 16 080 participants in our laboratory since from August 2011 to August 2016, were enrolled. Complete blood cell count was performed on XE4000i automatic hemocyte analyzer...
January 9, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29340581/gene-turnover-and-diversification-of-the-%C3%AE-and-%C3%AE-globin-gene-families-in-sauropsid-vertebrates
#3
Federico G Hoffmann, Michael W Vandewege, Jay F Storz, Juan C Opazo
The genes that encode the α- and β-chain subunits of vertebrate hemoglobin have served as a model system for elucidating general principles of gene family evolution, but little is known about patterns of evolution in amniotes other than mammals and birds. Here we report a comparative genomic analysis of the α- and β-globin gene clusters in sauropsids (archosaurs and nonavian reptiles). The objectives were to characterize changes in the size and membership composition of the α- and β-globin gene families within and among the major sauropsid lineages, to reconstruct the evolutionary history of the sauropsid α- and β-globin genes, to resolve orthologous relationships, and to reconstruct evolutionary changes in the developmental regulation of gene expression...
January 11, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29336892/gene-therapy-and-gene-editing-strategies-for-hemoglobinopathies
#4
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/29332098/a-novel-mutation-of-the-%C3%AE-globin-gene-in-an-asymptomatic-30-year-old-female
#5
Chiara Di Bella, Francesca Pugliatti, Maria Angela La Rosa, Simona Cara, Anna Paola Capra, Luciana Rigoli
No abstract text is available yet for this article.
January 13, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29325430/rapid-and-sensitive-assessment-of-globin-chains-for-gene-and-cell-therapy-of-haemoglobinopathies
#6
Constantinos Christos Loucari, Petros Patsali, Thamar B van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten Werner Lederer, Marina Kleanthous
The β-haemoglobinopathies sickle cell anaemia and β-thalassaemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains, because it indicates the level of anaemia, likely toxicity of excess or aberrant globins, and therapeutic potential of induced or exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile and inexpensive globin quantification, but commonly applied protocols suffer either from long run times, high sample requirements or inability to separate murine from human β-globin chains...
January 12, 2018: Human Gene Therapy Methods
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
#7
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/29318647/realizing-effectiveness-across-continents-with-hydroxyurea-enrollment-and-baseline-characteristics-of-the-multicenter-reach-study-in-sub-saharan-africa
#8
Patrick T McGann, Thomas N Williams, Peter Olupot-Olupot, George A Tomlinson, Adam Lane, José Luís Reis da Fonseca, Robert Kitenge, George Mochamah, Ham Wabwire, Susan Stuber, Thad A Howard, Kathryn McElhinney, Banu Aygun, Teresa Latham, Brígida Santos, Léon Tshilolo, Russell E Ware
Despite its well-described safety and efficacy in the treatment of sickle cell anemia (SCA) in high-income settings, hydroxyurea remains largely unavailable in sub-Saharan Africa, where more than 75% of annual SCA births occur and many comorbidities exist. Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) is a prospective, Phase I/II open-label trial of hydroxyurea designed to evaluate the feasibility, safety, and benefits of hydroxyurea treatment for children with SCA in four sub-Saharan African countries...
January 10, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29318368/increased-levels-of-advanced-glycation-end-products-positively-correlate-with-iron-overload-and-oxidative-stress-markers-in-patients-with-%C3%AE-thalassemia-major
#9
Maryam Sadat Mirlohi, Hamid Yaghooti, Saeed Shirali, Ali Aminasnafi, Samaneh Olapour
The impaired biosynthesis of the β-globin chain in β-thalassemia leads to the accumulation of unpaired alpha globin chains, failure in hemoglobin formation, and iron overload due to frequent blood transfusion. Iron excess causes oxidative stress and massive tissue injuries. Advanced glycation end products (AGEs) are harmful agents, and their production accelerates in oxidative conditions. This study was conducted on 45 patients with major β-thalassemia who received frequent blood transfusions and chelation therapy and were compared to 40 healthy subjects...
January 9, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29316124/analysis-of-quaternary-structure-of-hb-beckman-variant-and-molecular-interpretation-of-its-functional-abnormality-a-mass-spectrometry-based-approach
#10
Monita Muralidharan, Rajdeep Das, Vijay Bhat, Amit Kumar Mandal
Electrostatic attraction between α and β globin chains hold the subunits together in tetrameric human hemoglobin molecule (α₂β₂). Compared to normal globin chains, the affinity of a mutant chain to its partner globin in genetic variants of hemoglobin might be different. This leads to an unequal abundance of normal and variant hemoglobin in heterozygous sample, even though the rates of synthesis of both normal and variant chains are same. The aforementioned affinities across various globin chains might be assessed by the quantification of different forms of tetramers present in a variant hemoglobin sample...
January 8, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29315642/human-respiratory-syncytial-virus-load-normalized-by-cell-quantification-as-predictor-of-acute-respiratory-tract-infection
#11
Miriam Gómez-Novo, José A Boga, Marta E Álvarez-Argüelles, Susana Rojo-Alba, Ana Fernández, María J Menéndez, María de Oña, Santiago Melón
OBJECTIVES: Human respiratory syncytial virus (HRSV) is a common cause of respiratory infections. The main objective is to analyze the prediction ability of viral load of HRSV normalized by cell number in respiratory symptoms. STUDY DESIGN: A prospective, descriptive and analytical study was performed. From 7307 respiratory samples processed between December 2014 to April 2016, 1019 HRSV-positive samples, were included in this study. Low respiratory tract infection was present in 729 patients (71...
January 5, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29313434/a-novel-%C3%AE-thalassemia-insertion-frameshift-mutation-between-codons-77-78-p-leu78profs-13-or-hbb-c-235_236insc-observed-in-a-family-in-bangladesh
#12
Abdul Aziz, Sudipta A Das, Waqar A Khan, Salma Sadiya, Bilquis Banu, Golam Sarwardi, Rowshon Z Luna
β-Thalassemia (β-thal) is one of the most common inherited hemoglobin (Hb) disorders, worldwide. A 28-year-old female and her husband came to Dhaka Shishu (Children) Hospital, Bangladesh for prenatal diagnosis for thalassemia mutations. We identified and characterized a novel β-thalassemia (β-thal) mutation due to an insertion of cytosine between codons 77 and 78 (p.Leu78Profs*13) found in mother in a heterozygous state. This mutation caused an insertion in the normal reading frame of the β-globin coding sequence and the new stop codon being the amino acid 90 (HBB: c...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29313432/hb-hornchurch-%C3%AE-43-cd2-glu%C3%A2-lys-hbb-c-130g-a-compromises-the-molecular-diagnosis-of-%C3%AE-thalassemia-in-a-chinese-family
#13
Yuan Zhao, Lv-Yin Huang, Fan Jiang, Jian-Ying Zhou, Xing-Mei Xie, Dong-Zhi Li
The combination of β-thalassemia (β-thal) and a hemoglobin (Hb) variant is not uncommon in regions with a high prevalence of thalassemia. Although most of the β-globin chain variants will not aggravate the β-thal, some can compromise the accurate molecular diagnosis. In this study, we present a rare case of coinheritance of β-thal and Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A], that compromises the molecular diagnosis of homozygous β-thal.
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29313431/hb-mozhaisk-%C3%AE-92-f8-his%C3%A2-arg-hbb-c-278a-g-as-a-de-novo-mutation-in-a-child-of-mixed-ethnic-origins
#14
Elena Benzoni, Valentina Giannone, Laura Michetti, Manuela Seia, Laura Cavalleri, Cristina Curcio
Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the β-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia. Hematological data suggested severe hemolytic anemia. Sequencing of the β-globin gene revealed the mutation HBB: c.278A>G at codon 92 in a heterozygous state, reported as Hb Mozhaisk in the HbVar database. Other family members did not have Hb Mozhaisk, thus, this variant is due to a de novo mutation...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29296892/allogeneic-bone-marrow-transplant-in-the-absence-of-cytoreductive-conditioning-rescues-mice-with-%C3%AE-thalassemia-major
#15
Yongliang Huo, Jonathan R Lockhart, Shanrun Liu, Suean Fontenard, Mike Berlett, Thomas M Ryan
β-thalassemia is a group of inherited blood disorders that result in defects in β-globin chain production. Cooley anemia (CA), or β-thalassemia major, is the most severe form of the disease and occurs when an individual has mutations in both copies of the adult β-globin gene. Patients with CA fail to make adult hemoglobin, exhibit ineffective erythropoiesis, experience severe anemia, and are transfusion dependent for life. Currently, allogeneic bone marrow transplantation (BMT) is the only cure; however, few patients have suitable donors for this procedure, which has significant morbidity and mortality...
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296711/klf1-directly-activates-expression-of-the-novel-fetal-globin-repressor-zbtb7a-lrf-in-erythroid-cells
#16
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/29295702/high-resolution-melting-curve-analysis-targeting-the-hbb-gene-mutational-hot-spot-offers-a-reliable-screening-approach-for-all-common-as-well-as-most-of-the-rare-beta-globin-gene-mutations-in-bangladesh
#17
Md Tarikul Islam, Suprovath Kumar Sarkar, Nusrat Sultana, Mst Noorjahan Begum, Golam Sarower Bhuyan, Shezote Talukder, A K M Muraduzzaman, Md Alauddin, Mohammad Sazzadul Islam, Pritha Promita Biswas, Aparna Biswas, Syeda Kashfi Qadri, Tahmina Shirin, Bilquis Banu, Salma Sadya, Manzoor Hussain, Golam Sarwardi, Waqar Ahmed Khan, Mohammad Abdul Mannan, Hossain Uddin Shekhar, Emran Kabir Chowdhury, Abu Ashfaqur Sajib, Sharif Akhteruzzaman, Syed Saleheen Qadri, Firdausi Qadri, Kaiissar Mannoor
BACKGROUND: Bangladesh lies in the global thalassemia belt, which has a defined mutational hot-spot in the beta-globin gene. The high carrier frequencies of beta-thalassemia trait and hemoglobin E-trait in Bangladesh necessitate a reliable DNA-based carrier screening approach that could supplement the use of hematological and electrophoretic indices to overcome the barriers of carrier screening. With this view in mind, the study aimed to establish a high resolution melting (HRM) curve-based rapid and reliable mutation screening method targeting the mutational hot-spot of South Asian and Southeast Asian countries that encompasses exon-1 (c...
January 2, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29286226/almost-complete-lack-of-human-cytomegalovirus-and-human-papillomaviruses-genome-in-benign-and-malignant-breast-lesions-in-shiraz-southwest-of-iran
#18
Sahar Bakhtiyrizadeh, Seyed Younes Hosseini, Ramin Yaghobi, Aliakbar Safaei, Jamal Sarvari
Breast cancer ranks as the most common cancer among women worldwide. There have been controversial reports regarding contributions of human papillomaviruses (HPVs) and human cytomegalovirus (HCMV) to its development. The aim of this study was to determine the frequency of HPV and HCMV positivity in benign and malignant breast tumors. Materials and Methods: Formalin fixed paraffin-embedded tissue specimens of 150 breast cancers (invasive ductal and lobular carcinomas) and 150 non-malignant breast lesions (fibroadenomas, fibrocystic disease and adenosis) were examined...
December 29, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29279598/secondary-polycythaemia-in-a-malay-girl-with-homozygous-hb-tak
#19
H S Amran, M A Aziz, E George, N Mahmud, T Y Lee, S Md Noor
Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy...
December 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29276718/a-nonhuman-primate-transplantation-model-to-evaluate-hematopoietic-stem-cell-gene-editing-strategies-for-%C3%AE-hemoglobinopathies
#20
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
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