Loss of alpha‐globin genes in human subjects is associated with improved nitric oxide‐mediated vascular perfusion
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Hematology"
DOI: 10.1002/ajh.26058
Abstract: Alpha thalassemia is a hemoglobinopathy due to decreased production of the α‐globin protein from loss of up to four α‐globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease… read more here.
Keywords: globin genes; globin; human subjects; globin gene ... See more keywords
Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, “Hemoglobin St. George”) in a healthy child with low oxygen saturations and anemia
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Hematology"
DOI: 10.1002/ajh.26356
Abstract: To the Editor: Low oxygen affinity hemoglobin (Hb) mutations are a rare but important consideration in patients presenting with low peripheral oxygen saturations (SpO2) and anemia without clinical evidence of hypoxia; cyanosis may also be… read more here.
Keywords: oxygen; globin; hematology; oxygen affinity ... See more keywords
N-(2-Hydroxyethyl)-l-valyl-l-leucine in rat urine as a hydrolytic cleavage product of ethylene oxide adduct with globin
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Toxicology"
DOI: 10.1007/s00204-019-02388-8
Abstract: Ethylene oxide (EO), a genotoxic industrial chemical and sterilant, forms covalent adducts with DNA and also with nucleophilic amino acids in proteins. The adduct with N-terminal valine in globin [N-(2-hydroxyethyl)valine (HEV)] has been used in… read more here.
Keywords: valyl leucine; globin; ethylene oxide; hevl ... See more keywords
Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Hematology"
DOI: 10.1007/s00277-020-04017-2
Abstract: Dear Editor, Thalassemia is an autosomal recessive blood disorder caused by mutations in globin genes. Mutation in α-globin and β-globin gene results in reduced or absent synthesis of alpha and beta globin chain [1]. Thalassemia… read more here.
Keywords: globin; hematology; thalassemia; form ... See more keywords
ATF4 Regulates MYB to Increase γ-Globin in Response to Loss of β-Globin.
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.107993
Abstract: β-Hemoglobinopathies can trigger rapid production of red blood cells in a process known as stress erythropoiesis. Cellular stress prompts differentiating erythroid precursors to express high levels of fetal γ-globin. However, the mechanisms underlying γ-globin production… read more here.
Keywords: globin; response; atf4; stress ... See more keywords
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical biochemistry"
DOI: 10.1016/j.clinbiochem.2018.10.015
Abstract: BACKGROUND In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops… read more here.
Keywords: thalassemia; globin; gene; nonsense mutation ... See more keywords
A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots.
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DOI: 10.1016/j.jprot.2016.12.008
Abstract: Traditional methods for thalassemia screening are time-consuming and easily affected by cell hemolysis or hemoglobin degradation in stored blood samples. Tandem mass spectrometry (MS/MS) proved to be an effective technology for sickle cell disorders (SCD)… read more here.
Keywords: line screening; globin; first line; thalassemia ... See more keywords
Ovine β-globin gene: A new qPCR for rapid haplotype identification and association with susceptibility to Haemonchus contortus infection.
Sign Up to like & getrecommendations! Published in 2021 at "Veterinary parasitology"
DOI: 10.1016/j.vetpar.2021.109434
Abstract: Two β-globin allelic haplotypes (A and B) were identified in domestic sheep, wherein animals which are homozygous for βB allele (BB haplotype) have a deletion of pre-adult βC-globin and consequently are less tolerant to anemia… read more here.
Keywords: globin; haplotype identification; infection; haplotype ... See more keywords
Allele-specific recombinase polymerase amplification for real-time detection of sickle cell anaemia in low-resource settings: evaluation of an isothermal nucleic acid amplification test to detect the βS globin point mutation in paediatric patients
Sign Up to like & getrecommendations! Published in 2021 at "The Lancet Global Health"
DOI: 10.1016/s2214-109x(21)00121-2
Abstract: Abstract Background Sickle cell anaemia is a common, life-threatening disorder caused by a point mutation in the β globin gene. The high cost and complexity of conventional diagnostic methods limit the scope and sustainability of… read more here.
Keywords: blood; cell anaemia; globin; amplification ... See more keywords
Lentiviral globin gene therapy with reduced-intensity conditioning in adults with β-thalassemia: a phase 1 trial
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DOI: 10.1038/s41591-021-01554-9
Abstract: β-Thalassemias are inherited anemias that are caused by the absent or insufficient production of the β chain of hemoglobin. Here we report 6–8-year follow-up of four adult patients with transfusion-dependent β-thalassemia who were infused with… read more here.
Keywords: reduced intensity; intensity conditioning; lentiviral globin; globin ... See more keywords
Comparison of MicroRNAs Mediated in Reactivation of the γ-Globin in β-Thalassemia Patients, Responders and Non-Responders to Hydroxyurea
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DOI: 10.1080/03630269.2017.1290651
Abstract: Abstract Drug induction of Hb F seems to be an ideal therapy for patients with hemoglobin (Hb) disorders, and many efforts have been made to reveal the mechanism behind it. Thus, we examined in vivo… read more here.
Keywords: mediated reactivation; globin; non responders; micrornas mediated ... See more keywords