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Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 4
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Original Articles

The Effect of HBB: c.-121C>T Variant [–71 (C>T)] on the β-Globin Promoter: Case Series Study

Milad Rafata Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
,
Zeinab Allamehzadehb Medical Genetic Laboratory and Prenatal Diagnosis, Shahid Mohammadi Hospital, Hormozgan University of Medical Sciences (HUMS), Bandar Abbas, Iran
,
Mohammad Shekaria Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran;b Medical Genetic Laboratory and Prenatal Diagnosis, Shahid Mohammadi Hospital, Hormozgan University of Medical Sciences (HUMS), Bandar Abbas, Iran
,
Masoumeh Afsac Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
&
Kianoosh Malekzadeha Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran;b Medical Genetic Laboratory and Prenatal Diagnosis, Shahid Mohammadi Hospital, Hormozgan University of Medical Sciences (HUMS), Bandar Abbas, IranCorrespondence[email protected] [email protected]
ORCID Iconhttps://orcid.org/0000-0001-7011-5637
ORCID Icon
Pages 234-238 | Received 23 Jan 2021, Accepted 15 Jun 2021, Published online: 26 Jul 2021

References

  • Weatherall D, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79(8):704–712.
  • Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379(9813):373–383.
  • Cadet E, Foulon K, Claisse J-F, et al. First identification of a point mutation at position -83 (G>A) of the β-globin gene promoter. Hemoglobin. 2009;33(3):274–278.
  • Akbari MT, Izadi P, Izadyar M, et al. Molecular basis of thalassemia intermedia in Iran. Hemoglobin. 2008;32(5):462–470.
  • Al Zadjali S, Wali Y, Al Lawatiya F, et al. The β-globin promoter -71 C>T mutation is a β+ thalassemic allele. Eur J Haematol. 2011;87(5):457–460.
  • Henderson SJ, Timbs AT, McCarthy J, et al. Ten years of routine α- and β-globin gene sequencing in UK hemoglobinopathy referrals reveals 60 novel mutations. Hemoglobin. 2016;40(2):75–84.
  • Al Moamen NJ, Mahdi F, Salman E, et al. Silent β-thalassemia mutations at -101 (C>T) and -71 (C>T) and their coinheritance with the sickle cell mutation in Bahrain. Hemoglobin. 2013;37(4):369–377.
  • Mo Z-P, Yu C-S, Li Y-J, et al. Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments. Clin Chem Lab Med. 2012;50(4):649–654.
  • Woodhead JL, Fallon R, Figuieredo H, et al. Molecular diagnosis of hemoglobin disorder. In: Davies KE, Editor. Human Genetic Diseases – A Practical Approach. Oxford (Oxon, UK): IRL Press. 1986. p. 66–67.
  • Rafat M, Shekari M, Namjoo E, et al. A case report of Hb-Geelong in Hormozgan Province. Sci J Iran Blood Transfus Organ. 2020;17(2):140–146.
  • Liu YT, Old JM, Miles K, et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Najmabad H, Teymourian S, Jalilnezhad S, et al. Amplification refractory mutation system (ARMS) and reverse hybridization in the detection of beta-thalassemia mutations. Arch Irn Med. 2001;4(4):165–170.
  • Das SK, Talukder G. Beta globin gene and related diseases: a review. Int J Hum Genet. 2002;2(3):139–152.
  • Kiani AA, Mortazavi Y, Zeinali S, et al. The molecular analysis of β-thalassemia mutations in Lorestan Province, Iran. Hemoglobin. 2007;31(3):343–349.
  • Najmabadi H, Karimi-Nejad R, Sahebjam S, et al. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin. 2001;25(3):285–296.
  • Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196.
  • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980–D985.
  • Kountouris P, Stephanou C, Bento C, et al. ITHANET: information and database community portal for haemoglobinopathies. bioRXiv. 2017;209361. DOI:https://doi.org/10.1101/209361
  • Gordon CT, Fox VJ, Najdovska S, et al. C/EBPdelta and C/EBPgamma bind the CCAAT-box in the human beta-globin promoter and modulate the activity of the CACC-box binding protein, EKLF. Biochim Biophys Acta. 2005;1729(1):74–80.
  • Pirastru M, Mereu P, Nguyen CQ, et al. A novel -72 (T→A) β-promoter mutation causing slightly elevated HbA2 in a Vietnamese heterozygote. Biomed Res Int. 2017;2017:4537409.

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