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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 6
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Original Articles

δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience

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Pages 438-441 | Received 06 Jul 2020, Accepted 17 Sep 2020, Published online: 15 Oct 2020

References

  • Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331–4336.
  • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
  • Zlotogora J, van Baal S, Patrinos GP. Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat. 2007;28(10):944–949.
  • Weatherall DJ. The challenge of haemoglobinopathies in resource-poor countries. Br J Haematol. 2011;154(6):736–744.
  • Thalassaemia and other haemoglobinopathies. 118th Session, provisional agenda item 5.2. 59th World Health Assembly; held at Geneva, Switzerland; May 29–31; Geneva, Switzerland: World Health Organization; 2006. p. 144–148.
  • Ryan K, Bain BJ, Worthington D, et al. Significant haemoglobinopathies: guidelines for screening and diagnosis. Br J Haematol. 2010;149(1):35–49.
  • Alperin JB, Dow PA, Petteway MB. Hemoglobin A2 levels in health and various hematologic disorders. Am J Clin Pathol. 1977;67(3):219–226.
  • Kuhn JM, Rieu M, Rochette J, et al. Influence of thyroid status on hemoglobin A2 expression. J Clin Endocrinol Metab. 1983;57(2):344–348.
  • Wilkinson MJ, Bain BJ, Phelan L, et al. Increased haemoglobin A2 percentage in HIV infection: disease or treatment? AIDS. 2007;21(9):1207–1208.
  • Al-Amodi AM, Ghanem NZ, Aldakeel SA, et al. Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT). Curr Med Res Opin. 2018;34(5):945–951.
  • Chaweephisal P, Phusua A, Fanhchaksai K, et al. Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia. Blood Cells Mol Dis. 2019;74:13–17.
  • Sharma P, Das R, Trehan A, et al. Impact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes. Int Jnl Lab Hem. 2015;37(1):105–111.
  • Arshad M, Ahmed S, Ali N. Effect of iron deficiency on the phenotype of β-thalassaemia trait. J Coll Physicians Surg Pak. 2016;26(3):230–231.
  • Giambona A, Passarello C, Ruggeri G, et al. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica. 2006;91(12):1681–1684.
  • Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–831.
  • Van Kirk R, Sandhaus LM, Hoyer JD. The detection and diagnosis of hemoglobin A2′ by high-performance liquid chromatography. Am J Clin Pathol. 2005;123(5):657–661.
  • Hariharan P, Colaco S, Colah R, et al. Delta globin gene variations leading to reduction in HbA2 levels. Int J Lab Hematol. 2016;38(6):610–615.
  • Trifillis P, Ioannou P, Schwartz E, et al. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991;78(12):3298–3305.
  • Bouva MJ, Harteveld CL, van Delft P, et al. Known and new delta globin gene mutations and their diagnostic significance. Haematologica. 2006;91(1):129–132.
  • Alkindi S, AlZadjali S, Daar S, et al. First report of the spectrum of δ-globin gene mutations in Omani subjects – identification of novel mutations. Int J Lab Hematol. 2015;37(2):238–243.
  • Matsuda M, Sakamoto N, Fukumaki Y. Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Blood. 1992;80(5):1347–1351.
  • de Jong WW, Bernini LF. Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant. Nature. 1968;219(5161):1360–1362.
  • Huisman THJ, Reynolds CA, Dozy AM, et al. Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro. Biochim. Biophys. Acta. 1969;175(1):223–225.
  • Codrington JF, Kutlar F, Harris HF, et al. Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val- - - -Met, an unstable delta chain variant identified by sequence analysis of amplified DNA. Biochim Biophys Acta. 1989;1009(1):87–89.
  • Galanello R, Perseu L, Barella S, et al. Hb Belfast [β15(A12)Trp- ->Arg]: definition of the clinical and hematological phenotype. Hemoglobin. 2004;28(3):217–222.

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