Advanced search
Publication Cover
Hematology Volume 28, 2023 - Issue 1
Submit an article Journal homepage
744
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G)

Youqiong Lia Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8640-7375View further author information
ORCID Icon,
Shulin Liangb Department of Clinical Laboratory, The Second Women and Children Care Hospital of Nanning, Nanning, People’s Republic of ChinaView further author information
,
Liang Lianga Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
,
Lihong Zhenga Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
&
Xiaocai Luc Department of Clinical Laboratory, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
Article: 2213545 | Received 25 Feb 2023, Accepted 09 May 2023, Published online: 22 May 2023

References

  • Zhuang J, Jiang Y, Wang Y, et al. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China. J Clin Pathol. 2020;73:278–282.
  • Zhou B, Wang Y, Xu S, et al. Molecular spectrum of α- and β-thalassemia among young individuals of marriageable age in Guangdong Province, China. Biomed Environ Sci. 2021;34:824–829.
  • He S, Qin Q, Yi S, et al. Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China. Gene. 2017;619:71–75.
  • Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
  • Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician. 2009;80:339–344.
  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391:155–167.
  • Tanhehco YC. Gene therapy for hemoglobinopathies. Transfus Apher Sci. 2021;60:103061.
  • Li Y, Liang L, Qin T, et al. Detection of hemoglobin H disease by long molecule sequencing. J Clin Lab Anal. 2022;36:e24687.
  • Xu R, Li H, Yi S, et al. Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: pedigree analysis and genetic diagnosis. Clin Biochem. 2023;113:64–69.
  • Xu A, Chen W, Xie W, et al. A novel α-globin chain variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], detected by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Hemoglobin. 2021;45:250–253.
  • Tan X, Liu Y, Shang X, et al. A novel hemoglobin variant Hb Liaobu [α107 (G14)Val→Leu, HBA2: c.322G>C] detected by matrix-assisted laser desorption ionization-time-of-flight mass spectrometry. Hemoglobin. 2021;45:341–344.
  • Li Y, Huang H, Chen Z, et al. Comparison of capillary electrophoresis and high performance liquid chromatography for detection and quantification of hemoglobin New York. Clin Chem Lab Med. 2016;54:91–95.
  • Li Y, Liang L, Tian M, et al. Detection of Hb H disease caused by a novel mutation and --SEA deletion using capillary electrophoresis. J Clin Lab Anal. 2019;33:e22949.
  • Liang L, Ning S, Lu X, et al. A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level. Hematology. 2022;27:772–777.
  • Nakatsuji T, Webber BB, Johnson SE, et al. Two rare alpha chain variants, Hb Dunn or alpha 26(A4) Asp replaced by Asn beta 2 and Hb G-Pest or alpha 274 (EF3) Asp replaced by Asn beta 2, observed in an Indian and a black newborn. Hemoglobin. 1983;7:597–599.
  • Djoumessi S, Rousseaux J, Descamps J, et al. Hemoglobin Lille, alpha 2 [74(EF3) Asp replaced by Ala] beta 2. Hemoglobin. 1981;5:475–479.
  • Tang B, Wang J, Qin D, et al. Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family. Hematology. 2023;28:2187154.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.