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https://www.readbyqxmd.com/read/29138844/the-%C3%A2-%C3%AE-3-7-deletion-in-%C3%AE-%C3%A2-globin-genes-increases-the-concentration-of-fetal-hemoglobin-and-hemoglobin-a2-in-a-saudi-arabian-population
#1
J Francis Borgio, Sayed Abdulazeez, Noor B Almandil, Zaki A Naserullah, Sana Al-Jarrash, Ahmed M Al-Suliman, Huda Ismail Elfakharay, Fuad S Qaw, Fatimah I Alabdrabalnabi, Mohammed A Alkhalifah, Mohammed Shakil Akhtar, Hatem Qutub, Amein K Al-Ali
The regions of Al‑Qatif and Al‑Ahssa in the Eastern Province of Saudi Arabia are known for their high prevalence of hemoglobinopathies, including β‑thalassemia and sickle cell anemia. Previously, the α‑gene deletion has been demonstrated as highly prevalent among populations residing in these two regions. The present study was conducted in order to investigate the implications of the α‑globin gene deletion on fetal hemoglobin (HbF) and hemoglobin α2 (HbA2) concentrations in patients with transfusion‑dependent β‑thalassemia...
November 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29128676/how-nature-tunes-isoenzyme-activity-in-the-multifunctional-catalytic-globin-dehaloperoxidase-from-amphitrite-ornata
#2
Leiah M Carey, Roman Gavenko, Dimitri A Svistunenko, Reza A Ghiladi
The coelomic hemoglobin of Amphitrite ornata, termed dehaloperoxidase (DHP), is the first known multifunctional catalytic globin to possess biologically-relevant peroxidase and peroxygenase activities. Although the two isoenzymes of DHP, A and B, differ in sequence by only 5 amino acids out of 137 residues, DHP B consistently exhibits a greater activity than isoenzyme A. To delineate the contributions of each amino acid substitution to the activity of either isoenzyme, the substitutions of the five amino acids were systematically investigated, individually and in combination, using 22 mutants...
November 8, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29128400/strong-modulation-of-nitrite-reductase-activity-of-cytoglobin-by-disulfide-bond-oxidation-implications-for-nitric-oxide-homeostasis
#3
Brandon J Reeder, John Ukeri
Globin-mediated nitric oxide (NO) dioxygenase and nitrite reductase activities have been proposed to serve protective functions within the cell by scavenging or generating NO respectively. Cytoglobin has rapid NO dioxygenase activity, similar to other globins, however, the apparent rates of nitrite reductase activity have been reported as slow or negligible. Here we report that the activity of cytoglobin nitrite reductase activity is strongly dependent on the oxidation state of the two surface-exposed cysteine residues...
November 8, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29127682/genome-editing-for-the-%C3%AE-hemoglobinopathies
#4
Matthew H Porteus
The β-hemoglobinopathies are diverse set of disorders caused by mutations in the β-globin (HBB) gene. Because HBB protein is a critical component (along with α-globin, heme, and iron) of hemoglobin, the molecule essential for oxygen delivery to tissues, mutations in HBB can result in lethal diseases or diseases with multi-organ dysfunction. HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127681/reactivation-of-fetal-hemoglobin-for-treating-%C3%AE-thalassemia-and-sickle-cell-disease
#5
Shuaiying Cui, James Douglas Engel
Reactivation of fetal hemoglobin (HbF) in adult hematopoietic cells has the potential for great clinical benefit in patients bearing deleterious mutations in the β-globin gene, such as β-thalassemia and sickle cell disease (SCD), since increasing the production of HbF can compensate for underproduction of β-globin chains (in β-thalassemia) and it can also disrupt sickle hemoglobin polymerization (in SCD). Thus for the past few decades, concerted efforts have been made to identify an effective way to induce the synthesis of HbF in adult erythroid cells for potential therapeutic relief from the effects of these β-globinopathies...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127680/gene-addition-strategies-for-%C3%AE-thalassemia-and-sickle-cell-anemia
#6
Alisa C Dong, Stefano Rivella
Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening co-morbidities, such as stroke or spontaneous fractures. Current treatment involves transfusion and iron chelation; allogeneic bone marrow transplant is the only curative option, but is limited by the availability of matching donors and graft-versus-host disease...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127676/genetic-basis-and-genetic-modifiers-of-%C3%AE-thalassemia-and-sickle-cell-disease
#7
Swee Lay Thein
β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. Despite the apparent genetic simplicity, both disorders display a remarkable spectrum of phenotypic severity and share two major genetic modifiers-α-globin genotype and innate ability to produce fetal hemoglobin (HbF, α2γ2).This article provides an overview of the genetic basis for SCD and β-thalassemia, and genetic modifiers identified through phenotype correlation studies...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29124980/prenatal-diagnosis-and-molecular-analysis-of-a-large-novel-deletion-js-causing-%C3%AE-0-thalassemia
#8
Jinru Cao, Shuzhen He, Yudong Pu, Jingjing Liu, Fuping Liu, Jun Feng
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -(JS)) on the α-globin gene cluster causing α(0)-thal...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29115167/two-%C3%AE-1-globin-gene-point-mutations-causing-severe-hb-h-disease
#9
Hua Jiang, Lv-Yin Huang, Li Zhen, Fan Jiang, Dong-Zhi Li
Hb H disease is generally a moderate form of α-thalassemia (α-thal) that rarely requires regular blood transfusions. In this study, two Chinese families with members carrying transfusion-dependent Hb H disease were investigated for rare mutations on the α-globin genes (HBA1, HBA2). In one family, Hb Zürich-Albisrieden [α59(E8)Gly→Arg; HBA1: c.178G>C] in combination with the Southeast Asian (- -(SEA)) deletion was the defect responsible for the severe phenotype. In another family, a novel hemoglobin (Hb) variant named Hb Sichuan (HBA1: c...
November 8, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29115104/molecular-basis-of-%C3%AE-thalassemia-in-iran
#10
Atefeh Valaei, Morteza Karimipoor, Alireza Kordafshari, Sirous Zeinali
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common type of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the frequency and distribution of α-globin mutations in various regions of the country have been studied in recent years. A comprehensive search was performed in PubMed, Scopus, and national databases for finding reports on mutation detection in α-thal carriers and HbH disease with Iranian origin...
January 1, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29112633/2017-military-supplement-current-challenges-in-the-development-of-acellular-hemoglobin-oxygen-carriers-by-protein-engineering
#11
Andres S Benitez Cardenas, Premila P Samuel, John S Olson
This article reviews the key biochemical mechanisms that govern O2 transport, NO scavenging, and oxidative degradation of acellular hemoglobin and how these ideas have been used to try to develop strategies to engineer safer and more effective hemoglobin-based oxygen carriers (HBOCs). Significant toxicities due to acellular hemoglobin (Hb) have been observed after the administration of HBOCs or after the lysis of red cells, and include: (a) rapid clearance and kidney damage due to dissociation into dimers, haptoglobin binding, and macrophage activation; (b) early O2 release leading to decreased tissue perfusion in capillary beds; (c) interference with endothelial and smooth muscle signaling due to nitric oxide (NO) scavenging; (d) autooxidization of heme iron followed by production of reactive oxygen species; and (e) iron overload symptoms due to hemin loss, globin denaturation, iron accumulation, and further inflammation...
November 6, 2017: Shock
https://www.readbyqxmd.com/read/29101239/hri-coordinates-translation-by-eif2%C3%AE-p-and-mtorc1-to-mitigate-ineffective-erythropoiesis-in-mice-during-iron-deficiency
#12
Shuping Zhang, Alejandra Macias-Garcia, Jason Velazquez, Elena Paltrinieri, Randal J Kaufman, Jane-Jane Chen
Iron deficiency anemia is a prevalent disease, yet molecular mechanisms by which iron and heme regulate erythropoiesis are not completely understood. HRI, heme-regulated eIF2α kinase, is a key hemoprotein in erythroid precursors sensing intracellular heme concentrations to balance globin synthesis with the amount of heme available for hemoglobin production. HRI is activated by heme deficiency and oxidative stress, and phosphorylates eIF2α (eIF2αP), which inhibits the translation of globin mRNAs as well as enhances selectively the translation of activating transcription factor 4 (ATF4) mRNA to induce stress response genes...
November 3, 2017: Blood
https://www.readbyqxmd.com/read/29098096/hbs-sicilian-%C3%AE-%C3%AE-0-thalassemia-a-rare-variant-of-sickle-cell
#13
Grace Onimoe, Genine Smarzo
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)(0)-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29094190/evolution-of-single-domain-globins-in-hydrothermal-vent-scale-worms
#14
J Projecto-Garcia, A-S Le Port, T Govindji, D Jollivet, S W Schaeffer, S Hourdez
Hypoxia at deep-sea hydrothermal vents represents one of the most basic challenges for metazoans, which then requires specific adaptations to acquire oxygen to meet their metabolic needs. Hydrothermal vent scale-worms (Polychaeta; Polynoidae) express large amounts of extracellular single- and multi-domain hemoglobins, in contrast with their shallow-water relatives that only possess intracellular globins in their nervous system (neuroglobins). We sequenced the gene encoding the single-domain (SD) globin from nine species of polynoids found in various vent and deep-sea reduced microhabitats (and associated constraints) to determine if the Polynoidae SD globins have been the targets of diversifying selection...
November 1, 2017: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/29092908/coordination-and-redox-state-dependent-structural-changes-of-the-heme-based-oxygen-sensor-afgchk-associated-with-intraprotein-signal-transduction
#15
Martin Stranava, Petr Man, Tereza Skalova, Petr Kolenko, Jan Blaha, Veronika Fojtikova, Vaclav Martinek, Jan Dohnalek, Alzbeta Lengalova, Michal Rosulek, Toru Shimizu, Marketa Martinkova
The heme-based oxygen sensor histidine kinase AfGcHK is part of a two-component signal transduction system in bacteria. O2 binding to the Fe(II) heme complex of its N-terminal globin domain strongly stimulates autophosphorylation at His-183 in its C-terminal kinase domain. The 6-coordinate heme Fe(III)-OH- and -CN- complexes of AfGcHK are also active, but the 5-coordinate heme Fe(II) complex and the heme-free apo-form are inactive. Here, we determined the crystal structures of the isolated dimeric globin domains of the active Fe(III)-CN- and inactive 5-coordinate Fe(II) forms, revealing striking structural differences on the heme-proximal side of the globin domain...
November 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29090069/the-frequency-and-importance-of-common-%C3%AE-globin-gene-deletions-among-%C3%AE-thalassemia-carriers-in-an-iranian-population
#16
Azam Moosavi, Ali M Ardekani
BACKGROUND: β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manifestations of beta thalassemia, in known beta-thalassemia carriers and some hematology parameter changes...
October 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29089781/pharmacogenomics-of-sickle-cell-disease-steps-toward-personalized-medicine
#17
REVIEW
Marium Husain, Amber D Hartman, Payal Desai
Sickle cell disease (SCD) is a monogenetic disease but has a wide range of phenotypic expressions. Some of these differences in phenotype can be explained by genetic polymorphisms in the human globin gene. These polymorphisms can result in different responses to typical treatment, sometimes leading to inadequate therapeutics. Research is revealing more polymorphisms, and therefore, new targets for intervention to improve outcomes in SCD. This area of pharmacogenomics is continuing to develop. We provide a brief review of the current literature on pharmacogenomics in SCD and possible targets for intervention...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29078150/the-influence-of-the-cys46-cys55-disulfide-bond-on-the-redox-and-spectroscopic-properties-of-human-neuroglobin
#18
Marzia Bellei, Carlo Augusto Bortolotti, Giulia Di Rocco, Marco Borsari, Lidia Lancellotti, Antonio Ranieri, Marco Sola, Gianantonio Battistuzzi
Neuroglobin is a monomeric globin containing a six-coordinate heme b, expressed in the nervous system, which exerts an important neuroprotective role. In the human protein (hNgb), Cys46 and Cys55 form an intramolecular disulfide bond under oxidizing conditions, whose cleavage induces a helix-to-strand rearrangement of the CD loop that strengthens the bond between the heme iron and the distal histidine. Hence, it is conceivable that the intramolecular disulfide bridge modulates the functionality of human neuroglobin by controlling exogenous ligand binding...
October 16, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29076097/growing-and-genetically-manipulating-human-umbilical-cord-blood-derived-erythroid-progenitor-hudep-cell-lines
#19
Divya S Vinjamur, Daniel E Bauer
The recently established human umbilical cord blood-derived erythroid progenitor (HUDEP) cell lines have equipped red blood cell researchers with valuable in vitro models of erythroid development. Of the three established HUDEP cell lines, HUDEP-2 cells express predominantly adult β-globin and most closely resemble adult erythroid cells. This chapter describes culture protocols for the maintenance and erythroid differentiation of HUDEP-2 cells. Methods to genetically manipulate HUDEP-2 cells using a CRISPR/Cas9 nuclease-based approach are also discussed...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29076086/approaches-for-analysis-of-erythroid-cell-parameters-and-hemoglobinopathies-in-mouse-models
#20
Marie Trudel, Josepha-Clara Sedzro
Over the last decades several mouse models of human hemoglobin disorders have been and continue to be generated. This chapter aims at describing various approaches to evaluate the global red blood cell properties in mouse models of human hemoglobin disorders, in particular thalassemia and sickle cell disease. Analysis of erythroid parameters provides insights into the RBC physiologic or pathophysiologic status. Mice expressing both murine and human globin genes can be investigated using adapted protocols provided herein...
2018: Methods in Molecular Biology
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