Mutation spectrum of Î²-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia

Ani Melani Maskoen; Nurul S Rahayu; Lelani Reniarti; Susi Susanah; Bremmy Laksono; Prima Nanda Fauziah; Almira Zada; Dadang S Hidayat

doi:10.14715/10.14715/cmb/2017.63.12.6

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Vol. 63 No. 12: Issue 12

Issue Published : December 19, 2017

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Mutation spectrum of Î²-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia

https://doi.org/10.14715/10.14715/cmb/2017.63.12.6

Ani Melani Maskoen

Oral Biology Department, Faculty of Dentistry, Universitas Padjadjaran, Indonesia

Nurul S Rahayu

Genetic Molecular Laboratory, Faculty of Medicine, Universitas Padjadjaran, Indonesia

Lelani Reniarti

Pediatric Department, Hasan Sadikin Hospital, Bandung, Indonesia

Susi Susanah

Pediatric Department, Hasan Sadikin Hospital, Bandung, Indonesia

Bremmy Laksono

Oral Biology Department, Faculty of Dentistry, Universitas Padjadjaran, Indonesia

Prima Nanda Fauziah

Genetic Molecular Laboratory, Faculty of Medicine, Universitas Padjadjaran, Indonesia

Almira Zada

Genetic Study Group, Faculty of Medicine, Universitas Padjadjaran, Indonesia

Dadang S Hidayat

Pediatric Department, Hasan Sadikin Hospital, Bandung, Indonesia

Corresponding Author(s) : Ani Melani Maskoen

amelani@yahoo.com

Cellular and Molecular Biology, Vol. 63 No. 12: Issue 12
Article Published : December 30, 2017

Abstract

Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/... (no paired mutation), 2.06% compound heterozygote HbE/... (no paired mutation), 1.3% compound heterozygote IVS1nt1/... (no paired mutation), and 7 samples were unidentified. The thalassemia mutation IVS1nt5 homozygote is the most common mutation found in Thalassemia patients at Hasan Sadikin Hospital, Bandung. The samples with unidentified results might carry mutations other than the three that are observed in the present study.

Keywords

Thalassemia Beta globin Mutation Hasan Sadikin Hospital.

Maskoen, A. M., Rahayu, N. S., Reniarti, L., Susanah, S., Laksono, B., Fauziah, P. N., Zada, A., & Hidayat, D. S. (2017). Mutation spectrum of Î²-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia. Cellular and Molecular Biology, 63(12), 22–24. https://doi.org/10.14715/10.14715/cmb/2017.63.12.6

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References

Chan V, Chan TK, Chehab FF, Todd D. Distribution of 0-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet, 1987; 41:678-685.
Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 1992;80:2092-6.
Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJV. 0-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA, 1984; 81:2821-2825.
Kazazian HHJr, Dowling CD, Waber PG, Huang S, Lo WHY. The spectrum of 0-thalassemia genes in China and Southeast Asia. Blood, 1986;68:964-966.
Lie Injo LE, Cai SP,Wahidiyat I, et al. beta-thalassemia mutations in Indonesia and their linkage to beta-haplotypes. Am J Hum Genet 1989;45:971-5.
Setianingsih I, Williamson R,Marzuki S, Harahap A, Tamam M, Forrest S. Molecular basis of beta-thalassemia in Indonesia: application to prenatal diagnosis. Mol Diag 1998;3:11-20.
Thein SL, Winichagoon P, Hesketh C, et al. The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet 1990;47:367-75.
Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet Al, Sly WS, Valle D, Vogelstein B, editors. The metabolic and molecular bases of inherited disease (OMMBID). Chapter 101. New York, NY: McGraw-Hill, 2002. Available at: www.ommbid.com. Accessed December 31, 2007.
Weatherall DJ. The thalassaemias. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H,eds. The molecular basis of blood diseases. 2nd ed. Philadelphia: Saunders, 1994:157.
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Zeng YT, Huang SZ. Disorders of haemoglobin in China. J Med Genet, 1987;24:578-583

References

Chan V, Chan TK, Chehab FF, Todd D. Distribution of 0-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet, 1987; 41:678-685.

Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 1992;80:2092-6.

Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJV. 0-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA, 1984; 81:2821-2825.

Kazazian HHJr, Dowling CD, Waber PG, Huang S, Lo WHY. The spectrum of 0-thalassemia genes in China and Southeast Asia. Blood, 1986;68:964-966.

Lie Injo LE, Cai SP,Wahidiyat I, et al. beta-thalassemia mutations in Indonesia and their linkage to beta-haplotypes. Am J Hum Genet 1989;45:971-5.

Setianingsih I, Williamson R,Marzuki S, Harahap A, Tamam M, Forrest S. Molecular basis of beta-thalassemia in Indonesia: application to prenatal diagnosis. Mol Diag 1998;3:11-20.

Thein SL, Winichagoon P, Hesketh C, et al. The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet 1990;47:367-75.

Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet Al, Sly WS, Valle D, Vogelstein B, editors. The metabolic and molecular bases of inherited disease (OMMBID). Chapter 101. New York, NY: McGraw-Hill, 2002. Available at: www.ommbid.com. Accessed December 31, 2007.

Weatherall DJ. The thalassaemias. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H,eds. The molecular basis of blood diseases. 2nd ed. Philadelphia: Saunders, 1994:157.

Wheatherall DJ, Clegg JB. The thalassemia syndromes. 4th ed. Oxford, England: Blackwell Science Ltd, 2001.

Zeng YT, Huang SZ. Disorders of haemoglobin in China. J Med Genet, 1987;24:578-583

Author biographies is not available.