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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. ...
Clinical data show that severity of beta-thal correlates with the number of inherited alpha-globin genes (HBA1 and HBA2), with alpha- …
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.
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.
Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL. Hsu LA, et al. Life Sci Alliance. 2023 Oct 3;6(12):e202302204. doi: 10.26508/lsa.202302204. Print 2023 Dec. Life Sci Alliance. 2023. PMID: 37788909 Free PMC article.
Our study aimed to investigate if genetic variants around 16p13.3's HBA1 locus, associated with erythrocyte indices and HbA1c levels, predict alpha-thalassemia-related erythrocyte indices, cardiometabolic traits, and diabetes risk in Taiwanese individuals. ...
Our study aimed to investigate if genetic variants around 16p13.3's HBA1 locus, associated with erythrocyte indices and HbA1c levels, …
Mild alpha-Thalassemia Caused by a Mosaic alpha-Globin Gene Mutation.
Wang RY, Jiang F, Xu LL, Li DZ. Wang RY, et al. Hemoglobin. 2021 Mar;45(2):140-141. doi: 10.1080/03630269.2021.1904975. Epub 2021 Mar 29. Hemoglobin. 2021. PMID: 33775194
This novel variant, with a ValMet substitution at codon 93 of the alpha-globin chain, has been named Hb Qingcheng (HBA1: c.280G>A) for where the proband was born. A woman with somatic mosaicism for Hb Qingcheng presented with the phenotype of mild alpha-thalassemia (alp …
This novel variant, with a ValMet substitution at codon 93 of the alpha-globin chain, has been named Hb Qingcheng (HBA1: c.280G>A) …
152 results