Beta-thalassemia is one of most common autosomal recessive disorders worldwide. Populations in the Middle- East, Mediterranean region, Central Asia, Indian and Far East countries show high prevalence for thalassemia. It is also relatively common in populations of African descent. The highest incidences are reported in Cyprus, Sardinia, and South East Asia. In Egypt, the genetic information concerning the molecular defects in β- thalassemia has not yet been fully investigated. The current study aims to detect the most common β-globin gene mutations in Egypt among β-thalassemic patients by using PCR and reverse hybridization method in an attempt to estimate the incidence of β-thalassemia mutations, a step in an assessment strategy of β-thalassemia management. Thirty seven confirmed β- thalassemia Egyptian patients were included in this study (twenty three males and fourteen females, seventeen thalassemia major and twenty thalassemia intermediate patients). Nine β-globin mutations were found in this study. IVS 1-110 was represented by 34% of the studied alleles while IVS 1-6 was represented by 23.5%, IVS 1-1 was represented by 19%, Codon 27 was represented by 6.5%, IVS 2-848 was represented by 6.5%, IVS 2-745 was represented by 2.1%, IVS 2.1 was represented by 2.5%, Codon 39 was represented by 4% and IVS 1.5 was represented by 1.5%. β-globin mutation (IVS 1- 110[G>A]) was found to be the most common homozygous mutation while, β- globin mutation (IVS 1-110[G>A]/ IVS 1- 6[T>C]) was found to be the most common heterozygous mutation. β-globin mutations (IVS 1-110[G>A], IVS 1-6[T>C] and IVS 1-1[G>A]) were found in 76% of allelic mutations. . In conclusion, establishment of β-thalassemia mutations data base may be a step in managing the diseases by carrier detection, prenatal diagnosis in high risk families, and thus can provide a tool in the prevention strategy of β-thalassemia

Full Text:



Ahmed, S., M. Saleem, B. Modell and M. Petrou (2002). Screening extended families for genetic hemoglobin disorders in Pakistan. N. Engl. J. Med., 347: 1162-1168.

Al-Allawi, N. A., J. M. Jubrael and M. Hughson (2006). Molecular characterization of beta thalassemia in the Dohuk region of Iraq. Hemoglobin, 30: 479-486.

Bain, B. J. (2006). The alpha, beta, delta and gamma thalassaemias and related conditions. In Haemoglobinopathy Diagnosis, 2nd Edition. Wiley-Blackwell. Oxford, 63-138.

Edison, E. S., R. V. Shaji and S. G. Devi (2008). Analysis of ß-globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin. Genet., 73: 331-337.

Elmezayen, A. D., Samia M. Kotb, Nadia A. Sadek and E. M. Abdalla (2015). β-globin mutations in Egyptian patients with β- thalassemia. Lab. Med., 46: 8-13.

El-Beshlawy, A., N. Kaddah, L. Ragab, I. Hussein, G. Mouktar, A. Moustafa, E. El-Raouf, N. Hassaballa, T. Gaafarand and H. El-Sendiony (1999). Thalassemic prevalence and status in Egypt. Proceedings of the Annual Meeting of the American Pediatric Society, San Francisco, CA, USA.

El-Beshlawy, A., A. El-Shekha, M. Momtaz, F. Said, M. Hamdy, O. Osman, S. Meshaal, T. Gafaar and M. Petrou (2012). Prenatal diagnosis for thalassaemia in Egypt: what changed parents attitude. Prenatal Diagnosis, 32: 1-6.

EL-Fadaly, N., A. Abd-Elhameed, E. Abd-Elbar and M. El-Shanshory (2015). Accuracy of reverse Dot- Blot PCR in detection of different -Globin gene mutations. Indian J. Hematol. Blood Transfus, 32: 239- 243.

El-Gawhary, S., S. El-Shafie, M. Niazi, M. Aziz and A. El-Beshlawy (2007). Study of β-thalassemia mutations using the polymerase chain reaction amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients. Hemoglobin, 31: 63-69.

El-Shanshory, M. R., A. A. Hagag, S. S. Shebl, I. M. Badria, A. H. Abd Elhameed, E. S. Abd El-Bar, Y. Al-Tonbary, A. Mansour, H. Hassab, M. Hamdy, M. Alfy, L. Sherief and E. Sharaf (2014). Spectrum of Beta Globin gene mutations in Egyptian children with β- Thalassemia. Mediterr. J. Hematol. Infect. Dis., 6: e 2014 071, DOI: 10.4084/Mjhid.071.

Galanello, R. and R. Origa (2010). Betathalassemia. Orphanet Journal of Rare Diseases, 5: 11. doi: 10.1186/1750-1172-5-11.

Jiffri, E. H., N. Bogari, K. H. Zidan, S. Teama and N. A. Elhawary (2010). Molecular updating of β- thalassemia mutations in the upper Egyptian population. Hemoglobin, 34: 538-547.

Olivieri, N. and D. J. Weatherall (2001). Clinical aspects of thalassemia. In: Steinberg M. H., Forget B. G., Higgs D. R., Nagel R. L., editors. Disorders of hemoglobin, genetics, pathophysiology, and clinical management. Cambridge, England, Cambridge University, 277-341.

Omar, A., E. Abdel Karim, W. El Gendy, I. Marzouk and M. Wagdy (2005). Molecular basis of beta thalassemia in Egypt. Egypt J Immunol., 12: 15-24.

Weatherall, D. J., J. B. Clegg, D. R. Higgs and W. G. Wood (2007). The hemoglobinopathies. In: Scriver C. R., Beaudet A. l., Sly W. S., Valle D., Vogelstein B., editors. The metabolic and molecular bases of inherited disease (OMMBID). Chapter 101. New York, NY: McGraw-Hill, 2002. Available at: Accessed December 31.


  • There are currently no refbacks.

Copyright (c) 2017 Egyptian Journal of Genetics And Cytology

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.