Silent β-thalassemia: Transition Mutation of the β-globin Gene (Promoter nt-101 C>T)
Archives of Advances in Biosciences,
Vol. 13 No. 1 (2022),
1 January 2022
,
Page 1-4
https://doi.org/10.22037/aab.v13i.36666
Abstract
Introduction: Heterozygote β-thalassemia is called carrier or β-thalassemia trait (BTT).
Carriers have no clinical symptoms but sometimes have a mild anemia. They can often be
identified with MCV<80 fl, MCH<27 pg and HbA2> 3.5 %. However, these tests are not
enough to diagnose some unexpected beta-globin mutations in premarital or prenatal screening.
Case Presentation: The mentioned case was one of the most common silent β-thalassemia
mutations (promoter nt-101C>T).
Conclusion: It was the first report from Fars (Iran) and the second one from Iran. The case
had normal hematologic indices and borderline hemoglobin A2 values that may be mistakenly
interpreted as normal. The presented case showed that electrophoresis and PCR sequencing
methods should be applied for screening thalassemia.
- beta-Thalassemia, Genetic Carrier Screening, Heterozygote, Hematological Diseases, Anemia
How to Cite
References
El-Shanshory M, Hagag A, Shebl S, Badria I, Abd Elhameed A, Abd El-Bar E, et al. Spectrum of beta globin gene mutations in Egyptian children with β-Thalassemia. Mediterr J Hematol Infect Dis. 2014; 6(1):e2014071. [DOI:10.4084/mjhid.2014.071] [PMID] [PMCID]
Boonyawat B, Monsereenusorn C, Traivaree C. Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: Results from a single center study. Appl Clin Genet. 2014; 7:253-8. [DOI:10.2147/TACG.S73058] [PMID] [PMCID]
Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010; 12(2):61-76. [DOI:10.1097/GIM.0b013e3181cd68ed] [PMID]
Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010; 5:11. [DOI:10.1186/1750-1172-5-11] [PMID] [PMCID]
Vafaei M, Azad M, Shiargar P, Kazemi Haki B. [Quality of life in patients with thalassemia major referred to Ardabil Buali Hospital in 2012-13 (Persian)]. Med Sci J Islam Azad Univ Tehran Med Branch. 2015; 25(4):305-10. http://tmuj.iautmu.ac.ir/article-1-1029-en.html
Al-Suliman A. Prevalence of beta-thalassemia trait in premarital screening in Al-Hassa, Saudi Arabia. Ann Saudi Med. 2006; 26(1):14-6. [DOI:10.5144/0256-4947.2006.14] [PMID] [PMCID]
Al-Amodi AM, Ghanem NZ, Aldakeel SA, Ibrahim Al Asoom L, Rafique Ahmed N, Almandil NB, et al. Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT). Curr Med Res Opin. 2018; 34(5):945-51. [PMID]
Aslan D. “Silent” β-thalassemia mutation (promoter nt-101 C> T) with increased hemoglobin A2. Turk J Pediatr. 2016; 58(3):305-8. [DOI:10.24953/turkjped.2016.03.013] [PMID]
Fettah A, Bayram C, Yarali N, Isik P, Kara A, Culha V, et al. Beta-globin gene mutations in Turkish children with beta-thalassemia: Results from a single center study. Mediterr J Hematol Infect Dis. 2013; 5(1):e2013055. [DOI:10.4084/mjhid.2013.055] [PMID] [PMCID]
Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood. 2011; 118(13):3479-88. [DOI:10.1182/blood-2010-08-300335] [PMID]
Ali N, Moiz B, Bin Azhar W, Zaidi N, Memon R. Carrier detection for beta-thalassemia trait in general Pakistani population: A way forward. Hematology. 2012; 17(4):237-40. [PMID]
Hashemizadeh H, Noori R. Premarital screening of beta thalassemia minor in north-east of Iran. Iran J Ped Hematol Oncol. 2013; 3(1):210-5. [PMID]
Gonzalez-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, et al. A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with “silent” beta-thalassemia. Blood. 1989; 73(6):1705-11. [DOI:10.1182/blood.V73.6.1705.1705] [PMID]
Moi P, Faà V, Marini MG, Asunis I, Ibba G, Cao A, et al. A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br J Haematol. 2004; 126(6):881-4. [DOI:10.1111/j.1365-2141.2004.05146.x] [PMID]
Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C. Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica. 2002; 87(10):1113-4. [PMID]
Heidari Soureshjani E, Vallian S, Mirahmadi Babaheidari S, Abasian F. [Prevalence of various mutations in Beta thalassaemia in Province of Chahar Mahal Bakhtiari and Isfahan and its association with haematological parameters (Persian)]. Sci J Iran Blood Transfus Organ. 2017; 14(2):109-17. http://bloodjournal.ir/article-1-1104-en.html
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