Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 43, 2019 - Issue 1
95
Views
3
CrossRef citations to date
0
Altmetric
Short Communication

A Case Report of Compound Heterozygosity for β0+-Thalassemia Resulting from under Diagnosed β-Thalassemia Found in a Hb A'2 Sample

, , &
Pages 63-65 | Received 27 Dec 2018, Accepted 01 Feb 2019, Published online: 30 Apr 2019

References

  • Ceppellini R. Normal slow hemoglobin A2; its relation with a new slow hemoglobin B2 fraction and its importance for the recognition of thalassemic variants which occur in families with thalassemia media and hemoglobinopathy H. Acta Genet Med Gemellol (Roma) 1959;8(S2):47–68. [Italian].
  • Ball EW, Meynell MJ, Beale D, et al. Haemoglobin A2: alpha-2-delta-2-16 glycine-arginine. Nature 1966;209(5029):1217127–1218.
  • Jones RT, Brimhall B, Huisman THJ. Structural characterization of two δ variants. Hemoglobin A′2 (B2) and Hemoglobin Flatbush. J Biol Chem 1967;242(21):5141–5145.
  • Van Kirk R, Sandhaus LM, Hoyer JD. The detection and diagnosis of Hemoglobin A′2 by high-performance liquid chromatography. Am J Clin Pathol. 2005;123(5):657–661.
  • Deyde VM, Fattoum S, Lo BB, et al. Hemoglobin A′2 (HbA2delta') in the Mauritanian population: first results of a preliminary survey. Ann Hematol. 2002;81(7):386–388.
  • Bennani M, Mombo LE, Chaventre A, et al. Origin of Hb A′2 (Hb B2) [δ16(A13)Gly→Arg (GGC→CGC)]. Hemoglobin 2003;27(2):105–110.
  • Giambona A, Passarello C, Renda D, et al. The significance of the Hemoglobin A(2) value in screening for hemoglobinopathies. Clin Biochem. 2009;42(18):1786–1796.
  • Fucharoen G, Sanchaisuriya K, Sae-ung N, et al. A simplified screening strategy for thalassaemia and Haemoglobin E in rural communities in south-east Asia. Bull World Health Organ. 2004;82(5):364–372.
  • Karnpean R, Fucharoen G, Pansuwan A, et al. A proficiency testing program of hemoglobin analysis in prevention and control of severe hemoglobinopathies in Thailand. Clin Chem Lab Med 2013;51(6):1265–1271.
  • Pornprasert S, Tookjai M, Punyamung M, et al. Proficiency testing program for hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials. Clin Chem Lab Med. 2018;56(4):602–608.
  • Old J, Harteveld CL, Traeger-Synodinos J, et al. Prevention of thalassemias and other haemoglobin disorders. Volume 2: Laboratory Protocols, 1st ed. Nicosia (Cyprus): Thalassemia Interational Federation, 2012.
  • Pornprasert S, Wiengkum T, Srithep S, et al. Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis. Korean J Lab Med. 2011;31(3):138–142.
  • Vermeersch P, Philippe M, Goossens W. Co-inheritance of Haemoglobin A′2 and beta-thalassaemia in cis. Int J Lab Hematol. 2008;30(4):334–338.
  • Yee ME, Quarmyne MO, Segbefia C, et al. Hemoglobin F only syndrome at birth: a case of maternal HbA2′ Complicating the Diagnosis of β-Thalassemia. J Pediatr Hematol Oncol. 2016;38(1):e32–e34.
  • Joutovsky A, Hadzi NJ, Nardi MA. HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. Clin. Chem 2004;50(10):1736–1747.
  • Codrington JF, Li H-W, Kutlar F, et al. Observations on the levels of Hb A2 in patients with different β-thalassemia mutations and a δ chain variant. Blood 1990;76(6):1246–1249.

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.