Volume 5, Issue 2 (May 2017)                   Res Mol Med (RMM) 2017, 5(2): 34-36 | Back to browse issues page

XML Print

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

Karami H, Jalali H, Mahdavi M, Mahdavi M R. Identification of a Neonate with Thalassemia Intermedia Despite Premarital Screening Program in Mazandaran Province (Co-inheritance of Hb Knossos and IVS II-1 G> A Mutations). Res Mol Med (RMM). 2017; 5 (2) :34-36
1- Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
2- Students Research Committee, Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
3- Sina Mehr Research Center, Sari, Iran
4- Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran ,
Abstract:   (4214 Views)

Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital screening.
Material and Methods: A 4 years old boy affected with β-thalassemia was referred to the lab for molecular analysis. During the screening program for β-thalassemia, his father and mother were diagnosed as α and β-thalassemia carrier respectively. 
Results: The results of molecular analysis showed that in addition to the α-globin single gene deletion (α3.7) the father have also carried a silent mutation on his β-globin gene named HBB c.82G>T or Hb Knossos that was missed in screening program.
Conclusion: The presented case shows that using CBC and hemoglobin electrophoresis in premarital screening program for detecting β-thalassemia carriers is not a valid approach and individuals who are carriers of silent β-globin gene mutations are missed in this procedure. Hence, in premarital screening program precise molecular investigation especially when the partner is a typical β-thalassemia carrier is recommended.

Full-Text [PDF 397 kb]   (1051 Downloads)    
Type of Study: case report | Subject: Pediatric Hematology&Oncology
Received: 2017/04/30 | Accepted: 2017/09/5 | Published: 2017/09/5

1. Weatherall DJ. The thalassemias. In: Williams JW. Haematology, 6th edn. McGraw Hill, New York. 1991.
2. Weatherall DJ, Clegg JB. The thalassaemia syndromes. Blackwell Science, Oxford. Blackwell Science, Oxford. 2001. [DOI:10.1002/9780470696705]
3. Karimi M, Jamalian N, Yarmohammadi H, Askarnejad A, Afrasiabi A, Hashemi A. Premarital screening for β-thalassaemia in Southern Iran: options for improving the programme. J Med Screen. 2007; 14(2):62-6. PMID: 17626703 [DOI:10.1258/096914107781261882]
4. Khorasani G, Kosaryan M, Vahidshahi K, Shakeri S, Nasehi MM. Results of the national program for prevention of beta-thalassemia major in the Iranian Province of Mazandaran. Hemoglobin. 2008; 32(3):263-71. PMID: 18473242 [DOI:10.1080/03630260802004269]
5. 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 [DOI:10.1002/pd.2373]
6. Samavat A, Modell B. Iranian national thalassaemia screening programme. BMJ. 2004; 329(7475):1134-7. PMID: 15539666 [DOI:10.1136/bmj.329.7475.1134]
7. Maragoudaki E, Kanavakis E, Traeger-Synodinos J, Vrettou C, Tzetis M, Metaxotou-Mavrommati A, et al. Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes. Br J Haematol. 1999; 107(4):699-706. PMID: 10606872 [DOI:10.1046/j.1365-2141.1999.01788.x]
8. Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, et al. Silent thalassemias: genotypes and phenotypes. Haematologica. 1997; 82(3):269-80. PMID: 9234571
9. Orkin SH, Antonarakis SE, Loukopoulos D. Abnormal processing of beta Knossos RNA. Blood. 1984. 64(1):311-13.
10. Fessas PH, Loukopoulos D, Loutradi-Anagnostou A, Komis G. ''Silent'' beta-thalassemia caused by a ''silent'' beta-chain mutant: The pathogenesis of a syndrome of thalassemia intermedia. Br J Haematol. 1982; 51(4):577-83. PMID: 7104238 [DOI:10.1111/j.1365-2141.1982.tb02821.x]
11. Zahed L. The spectrum of beta-thalassemia mutations in the Arab populations. J Biomed Biotechnol. 2001. 1(3):129-32. [DOI:10.1155/S1110724301000298]
12. 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 [DOI:10.1179/1607845413Y.0000000115]
13. Mahdavi MR, Karami H, Akbari MT, Jalali H, Roshan P. Detection of Rare Beta Globin Gene Mutation [+22 5UTR (G>A)] in an Infant, Despite Prenatal Screening. Case Rep Hematol. 2013; 2013:906292. PMID: 23662220
14. Mahdavi MR, Jalali H, Kosaryan M, Roshan P, Mahdavi M. β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran. Genes Genet Syst. 2015; 90(1):55-7. PMID: 26119666 [DOI:10.1266/ggs.90.55]
15. Aghajani F, Mahdavi MR, Kosaryan M, Mahdavi M, Hamidi M, Jalali H. Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran. Genes Genet Syst. 2017 13; 91(6):311-13. PMID: 28003571
16. Mahdavi MR, Bayat N, Hadavi V, Karami H, Roshan P, Najmabadi H, et al. Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran. J Pak Med Assoc. 2012; 62(4):396-8. PMID: 22755290
17. Mahdavi MR, Karimi M, Yavarian M, Roshan P, Kosaryan M, Siami R. Detection of Hb Setif in north Iran and the question of its origin: Iranian or multiethnic? Hemoglobin. 2011; 35(2):152-6. PMID: 21417573 [DOI:10.3109/03630269.2011.557461]
18. Nasouhipur H, Banihashemi A, Youssefi Kamangar R, Akhavan-Niaki H. Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. Indian J Hematol Blood Transfus. 2014; 30(Suppl 1):243-5. PMID: 25332589 [DOI:10.1007/s12288-014-0343-y]

Add your comments about this article : Your username or Email:

© 2021 CC BY-NC 4.0 | Research in Molecular Medicine

Designed & Developed by : Yektaweb