Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 47, 2023 - Issue 2
96
Views
1
CrossRef citations to date
0
Altmetric
Original Articles

Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations

, , , , , , , , , & ORCID Icon show all
Pages 52-55 | Received 27 Dec 2022, Accepted 21 May 2023, Published online: 12 Jun 2023

References

  • Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517–522.
  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018; 391 (10116):155–167.
  • Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet. 2010;78(2):139–148.
  • Laosombat V, Viprakasit V, Chotsampancharoen T, et al. Clinical features and molecular analysis in Thai patients with HbH disease. Ann Hematol. 2009;88(12):1185–1192.
  • Chen GL, Jiang F, Li J, et al. Results of Coexistence of beta-Thalassemia Minor in Hb H Disease Patients. Hemoglobin. 2018;42(5-6):306–309.
  • Yin XL, Wu ZK, Zhou XY, et al. Co-inherited beta-thalassemia trait and HbH disease: clinical characteristics and interference in diagnosis of thalassemia by high-performance liquid chromatography. Int J Lab Hematol. 2012;34(4):427–431.
  • Qiu Y, Huang Y, Chen P, et al. Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to beta-Thalassemia Major in a Chinese Family. Hemoglobin. 2020;44(6):402–405.
  • Plaseska D, Wilson JB, Gu LH, et al. Hb Zengcheng or alpha 2 beta(2)114(G16)Leu––Met. Hemoglobin. 1990;14(5):555–557.
  • Choed-Amphai C, Phusua A, Ittiwut C, et al. Coinherited hemoglobin h/constant spring disease and heterozygous hemoglobin tak causing severe hemolytic anemia in a Thai boy. J Pediatr Hematol Oncol. 2021;43(5):E723–e726.
  • Jiang NH, Liang S, Su C, et al. A novel beta-thalassemia mutation [IVS-II-5 (G–>C)] in a Chinese family from Guangxi Province, P.R. China. Hemoglobin. 1993;17(6):563–567.
  • Jiang NH, Liang S. The beta+-thalassemia mutation [IVS-II-5 (G–>C] creates an alternative splicing site in the second intervening sequence. Hemoglobin. 1999;23(2):171–176.
  • Zhao L, Qing J, Liang Y, et al. A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C). Hemoglobin. 2016;40(6):428–430.
  • Lacan P, Aubry M, Francina A, et al. Hb Zengcheng [beta 114(G16)Leu–>Met] in a Cambodian family. Hemoglobin. 1997;21(4):363–367.

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.