COPE
Volume 5, Issue 1 (Feb 2017)                   Res Mol Med (RMM) 2017, 5(1): 44-47 | Back to browse issues page


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Jalali H, Kosaryan M, Mahdavi M R, Mahdavi M. Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016. Res Mol Med (RMM). 2017; 5 (1) :44-47
URL: http://rmm.mazums.ac.ir/article-1-214-en.html
Abstract:   (1565 Views)

Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  haemoglobin[T2]  H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hematological indices and β-globin gene mutations, in heterozygote states, leads to intermediate form of thalassemia. Using precise molecular analysis, the mutations that do not change the hematological parameters can be identified.  The diagnosis of these mutations is important in screening programs.   Multiplex Gap-PCR and reverse hybridization assay analysis were applied for the detection of mutations on α and β-globin genes in a patient with abnormal hematological[T3]  indices from Sari at 2016. A rare co-inheritance of --MED double gene deletion and αααAnti3.7 triplication was identified. The presented case can be at risk of having a child with HbH disease and thalassemia intermedia. So, the presented case shows the [T4] importance of precise molecular analysis in premarital screening in order to prevent having a child with thalassemia.


Full-Text [PDF 435 kb]   (511 Downloads)    
Type of Study: case report | Subject: Molecular biology
Received: 2016/10/25 | Accepted: 2017/05/2 | Published: 2017/05/2

References
1. Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008 Oct 14; 7(4):1045-53. PMID: 19048483
2. Rosnah B, Rosline H, Zaidah AW, Noor Haslina MN, Marini R, Shafini MY, et al. Detection of Common Deletional Alpha-Thalassemia Spectrum by Molecular Technique in Kelantan, Northeastern Malaysia. ISRN Hematol. 2012; 462969. PMID: 22888447
3. Piel FB, Weatherall DJ. The α-thalassemias. N Engl J Med. 2014 Nov 13; 371(20):1908-16. PMID: 25390741
4. Langlois S, Ford JC, Chitayat D, Désilets VA, Farrell SA, Geraghty M. Carrier screening for thalassemia and hemoglobinopathies in Canada. J Obstet Gynaecol Can. 2008; 30(10):950-71. PMID: 19038079
5. Uaprasert N, Settapiboon R, Amornsiriwat S, Sutcharitchan P, Rojnuckarin P. The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations. Int J Hematol. 2017; 105(6): 819-827. PMID: 28168416
6. Jalali H, Mahdavi MR, Roshan P, Kosaryan M, Karami H, Mahdavi M. Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. Hematology. 2014; 19(4):192-5. PMID: 24074530
7. Chen M, Han JY, Sun Q, Kim IH, Ren Z, Huang S, Zeng Y. Molecular diagnosis in a Korean family with thalassemia intermedia due to co-inheritance of triplicated alpha-globin genes (alpha alpha/alpha alphaalpha (anti 3.7)) and beta-thalassemia trait (IVS-II-1 G-->A). ZhonghuaXue Ye XueZaZhi. 2000; 21(4):195-7. PMID: 11876981
8. Moosavi SF, Amirian A, Zarbakhsh B, Kordafshari A, Mirzahoseini H, Zeinali S, et al. The carrier frequency of α globin gene triplication in an Iranian population with normal or borderline hematological parameters. Hemoglobin. 2011; 35(4):323-30. PMID: 21797699
9. Oron-Karni V, Filon D, Oppenheim A, Rund D. Rapid detection of the common Mediterranean alpha-globin deletions/rearrangements using PCR. Am J Hematol. 1998; 58(4):306-10. PMID: 9692395
10. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood. 2000; 95(1):360-2. PMID: 10607725
11. Fallah MS, Samavat A, Zeinali S. Iranian national program for the prevention of thalassemia and prenatal diagnosis: mandatory premarital screening and legal medical abortion. Prenat Diagn. 2009; 29(13):1285-6. PMID: 19953581
12. Tamaddoni A, Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, et al. alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin. 2009; 33(2):115-23. PMID: 19373587
13. Alkindi SS, Alzadjali S, Daar S, Sindhuvi E, Wali Y, Pathare AV. A stepwise α-thalassemia screening strategy in high-prevalence areas. Eur J Haematol. 2013; 91(2):164-9.
14. Giordano PC, Bakker-Verwij M, Harteveld CL. Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations. Hemoglobin. 2009; 33(2):124-31. PMID: 19373588
15. Valizadeh F, Mousavi A, Hashemi-Soteh MB. Prevalence of hemoglobinopathies in premarriage individuals referred to Babolsar, Iran (2006-09). J Gorgan Uni Med Sci 2012, 14(1): 106-112.

Add your comments about this article : Your username or Email:
Write the security code in the box

Send email to the article author


© 2015 All Rights Reserved | Research in Molecular Medicine

Designed & Developed by : Yektaweb