Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 4
124
Views
4
CrossRef citations to date
0
Altmetric
Original Article

Compound Heterozygosity for HKαα and an in Cis Deletion of Double α Genes Presents as α-Thalassemia Trait

, , , , &
Pages 256-259 | Received 10 Oct 2014, Accepted 11 Nov 2014, Published online: 27 May 2015

References

  • Liao C, Wei J, Li Q, et al. Nonimmune hydrops fetalis diagnosed during the second half of pregnancy in Southern China. Fetal Diagn Ther. 2007;22(4):302–305
  • Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: Not necessarily a benign disorder. Blood. 2003;101(3):791–800
  • Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of α- and β-thalassaemia in Guangdong Province: Implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517–522
  • Wang W, Chan AY, Chan LC, et al. Unusual rearrangement of the α-globin gene cluster containing both the –α3.7 and αααanti 4.2 crossover junctions: Clinical diagnostic implications and possible mechanisms. Clin Chem. 2005;51(11):2167–2170
  • Shang X, Li Q, Cai R, et al. Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects. Clin Genet. 2013;83(5):472–476
  • Liao C, Li Q, Wei J, et al. Prenatal control of Hb Bart’s disease in southern China. Hemoglobin. 2007;31(4):471–475
  • Li J, Li R, Li DZ. Identification of nondeletional α-thalassemia in prenatal screening program by reverse dot-blot in southern China. Hemoglobin. 2015;39(1):42–45
  • Li D, Liao C, Li J, et al. Prenatal diagnosis of β-thalassemia by reverse dot-blot hybridization in southern China. Hemoglobin. 2006;30(3):365–370
  • Higgs DR, Vickers MA, Wilkie AOM, et al. A review of the molecular genetics of the human α-globin gene cluster. Blood. 1989;73(5):1081–1104
  • Zimmer EA, Martin SL, Beverly SM, et al. Rapid duplication and loss of gene coding for the α chains of hemoglobin. Proc Natl Acad Sci USA. 1980;77(4):2158–2162
  • Lauer J, Shen CK, Maniatis T. The chromosomal arrangement of human α-like genes: Sequence homology and α-globin gene deletions. Cell. 1980;20(1):119–130
  • Borg J, Georgitsi M, Aleporou-Marinou V, et al. Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem. 2009;42(18):1839–1850
  • Higgs DR, Hill AVS, Weatherall DJ, Clegg JB. Independent recombination events between the duplicated human α-globin genes. Implications for their concerted evolution. Nucleic Acid Res. 1984;12(18):6965–6977
  • Li Z, Cai S, Rong K, et al. The first compound heterozygosity for HKαα allele and Southeast Asian deletion allele. Clin Biochem. 2007;40(5–6):407–410
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu)
  • Tang HS, Zhou JY, Xie XM, Li DZ. Newborn screening for α-thalassaemia by a capillary electrophoresis method. J Med Screen. 2012;19(3):159

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.