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2020 47
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204 results

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Page 1
Correction of beta-thalassemia by CRISPR/Cas9 editing of the alpha-globin locus in human hematopoietic stem cells.
Pavani G, Fabiano A, Laurent M, Amor F, Cantelli E, Chalumeau A, Maule G, Tachtsidi A, Concordet JP, Cereseto A, Mavilio F, Ferrari G, Miccio A, Amendola M. Pavani G, et al. Blood Adv. 2021 Mar 9;5(5):1137-1153. doi: 10.1182/bloodadvances.2020001996. Blood Adv. 2021. PMID: 33635334 Free PMC article.
Clinical data show that severity of beta-thal correlates with the number of inherited alpha-globin genes (HBA1 and HBA2), with alpha-globin gene deletions having a beneficial effect for patients. Here, we describe a novel strategy to treat beta-thal based on genome editing …
Clinical data show that severity of beta-thal correlates with the number of inherited alpha-globin genes (HBA1 and HBA2), with alpha- …
Hb Huadu [alpha124(H7)SerThr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the alpha-Globin Gene.
Ju AP, Zheng LH, Fu XT, Liu SX, Li YQ. Ju AP, et al. Hemoglobin. 2022 Nov;46(6):335-337. doi: 10.1080/03630269.2022.2151464. Epub 2022 Dec 16. Hemoglobin. 2022. PMID: 36524388
Sanger sequencing revealed a heterozygous missense substitution at nucleotide 373 on the HBA2 gene, which results in the replacement of serine by threonine at codon 124 [alpha124(H7)SerThr (TCC>ACC), HBA2: c.373T>A]. ...
Sanger sequencing revealed a heterozygous missense substitution at nucleotide 373 on the HBA2 gene, which results in the replacement …
Loss of alpha globin genes is associated with improved microvascular function in patients with sickle cell anemia.
Romana M, Reminy K, Moeckesch B, Charlot K, Hardy-Dessources MD, Doumdo L, Tressieres B, Etienne-Julan M, Lemonne N, Denton C, Coates T, Petras M, Antoine-Jonville S, Connes P. Romana M, et al. Am J Hematol. 2021 May 1;96(5):E165-E168. doi: 10.1002/ajh.26126. Epub 2021 Mar 1. Am J Hematol. 2021. PMID: 33580983 Free article. No abstract available.
A Novel alpha-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (GlySer)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry.
Xu A, Chen W, Xie W, Zheng H, Zhou Y, Ji L. Xu A, et al. Hemoglobin. 2021 Jul;45(4):250-253. doi: 10.1080/03630269.2021.1956946. Epub 2021 Jul 26. Hemoglobin. 2021. PMID: 34309461
Sanger sequencing confirmed the presence of a heterozygous missense mutation [HBA2: c.46G>A, codon 15 (GGT>AGT), (GlySer)]. The theoretical mass difference (30 Da) due to the substitution of amino acid glycine to serine matched the actual measured mass difference (29 …
Sanger sequencing confirmed the presence of a heterozygous missense mutation [HBA2: c.46G>A, codon 15 (GGT>AGT), (GlySer)]. The …
Alpha globin gene copy number and hypertension risk among Black Americans.
Ruhl AP, Jeffries N, Yang Y, Gutierrez OM, Muntner P, Naik RP, Pecker LH, Mott BT, Zakai NA, Safford MM, Lange LA, Winkler CA, Irvin MR, Cushman M, Ackerman HC. Ruhl AP, et al. PLoS One. 2022 Jul 14;17(7):e0271031. doi: 10.1371/journal.pone.0271031. eCollection 2022. PLoS One. 2022. PMID: 35834496 Free PMC article.
False HbA1cValue due to a Rare Variant of Hemoglobin J-Cubujuqui.
Ye L, Huang Y, Zheng L, Shen X, Liang L, Li Y. Ye L, et al. Clin Lab. 2023 Oct 1;69(10). doi: 10.7754/Clin.Lab.2023.230502. Clin Lab. 2023. PMID: 37844042
Sanger sequencing revealed a heterozygous mutation (CGTAGT) at amino acid position 141 of the alpha1 gene, corresponding to Hb J-Cubujuqui [alpha1 141(HC3) ArgSer (CGTAGT); HBA1:c.424CA (or HBA2)]. CONCLUSIONS: This is the first report that Hb J-Cubujuqui interferes with t …
Sanger sequencing revealed a heterozygous mutation (CGTAGT) at amino acid position 141 of the alpha1 gene, corresponding to Hb J-Cubujuqui [ …
204 results