Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 5
91
Views
1
CrossRef citations to date
0
Altmetric
Short Communications

Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report

, , &
Pages 329-331 | Received 15 Sep 2021, Accepted 30 Nov 2021, Published online: 27 Dec 2021

References

  • Thein SL. Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable? Br J Haematol. 1999;107(1):12–21.
  • Efremov GD. Dominantly inherited β-thalassemia. Hemoglobin. 2007;31(2):193–207.
  • Girodon E, Ghanem N, Vidaud M, et al. Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants. Ann Hematol. 1992;65(4):188–192.
  • Amato A, Cappabianca MP, Perri M, et al. Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ-gene mutations associated with hereditary persistence of fetal hemoglobin. Int J Lab Hematol. 2014;36(1):13–19.
  • Hariharan P, Kishnani P, Sawant P, et al. Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. Ann Hematol. 2020;99(7):1475–1483.
  • Saechan V, Nopparatana C, Nopparatana C, et al. Molecular basis and hematological features of hemoglobin variants in Southern Thailand. Int J Hematol. 2010;92(3):445–450.
  • Kazazian HH, Jr, Dowling CE, Hurwitz RL, et al. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. Blood. 1992;79(11):3014–3018.
  • Baudin-Chich V, Wajcman H, Gombaud-Saintonge G, et al. Hehoglobin Brest [β127(H5)Gln→Lys] a new unstable human hemoglobin variant located at the α1β1 interface with specific electrophoretic behavior. Hemoglobin. 1988;12(2):179–188.
  • Huisman THJ, Wilson JB, Kutlar A, et al. Hb J-antakya or α2β265(E9)lys→met in a Turkish family and Hb complutense or α2β2127(H5)Gln→Glu in a Spanish family; correction of a previously published identification. Biochim Biophys Acta. 1986;871(2):229–231.
  • Ohga S, Nomura A, Takada H, et al. Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen. Int J Hematol. 2003;78(4):329–334.
  • Préhu C, Pissard S, Al-Sheikh M, et al. Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (–T)] and codon 127 [CAG>TAG (Gln→stop)]. Hemoglobin. 2005;29(3):229–233.
  • Frischknecht H, Dutly F, Walker L, et al. Three new β-thalassemia mutations with varying degrees of severity. Hemoglobin. 2009;33(3):220–225.
  • Pu J, Zhang L, Wei X, et al. Clinical genotyping by next generation sequencing reveals a novel, de novo β-globin gene mutation causing hemolytic anemia in a Chinese individual. Hemoglobin. 2018;42(3):184–188.

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.