Molecular characterization of deletional forms of β-thalassemia in Taiwan

C. T. Peng, S. C. Liu, S. S. Chiou, Pao-Lin Kuo, M. C. Shih, J. Y. Chang, J. G. Chang

Research output: Contribution to journalArticle

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Abstract

β-Thalassemia is one of the most common genetic diseases in Taiwan. The most common mutations of β-globin are point mutations, and six mutations account for over 90% of cases. Less than 5% of the cases with β-globin gene deletion result in β-thalassemia minor. The mutational type of the deletion is not clear in Taiwanese. We used polymerase chain reaction (PCR)-based methods to detect the breakpoint junctions of different deletional types of β-thalassemia. In total, six cases of clinically suspected deletional type of β-thalassemia were studied. The results showed that there were three types of deletions in these cases: two cases each for hereditary persistent fetal hemoglobinemia (HPFH) of the Southeast Asian (SEA) type, HPFH of the Yunnanese type, and γG+(γAδβ)0 deletions, respectively. The clinical features of these deletional mutations are milder than the βo types of the point mutation. The patients with compound heterozygous mutations of the point mutation and the deletional mutation are always transfusion independent.

Original languageEnglish
Pages (from-to)33-36
Number of pages4
JournalAnnals of Hematology
Volume82
Issue number1
Publication statusPublished - 2003 Jan 1

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Thalassemia
Taiwan
Mutation
Point Mutation
Globins
Inborn Genetic Diseases
beta-Thalassemia
Gene Deletion
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Hematology

Cite this

Peng, C. T., Liu, S. C., Chiou, S. S., Kuo, P-L., Shih, M. C., Chang, J. Y., & Chang, J. G. (2003). Molecular characterization of deletional forms of β-thalassemia in Taiwan. Annals of Hematology, 82(1), 33-36.
Peng, C. T. ; Liu, S. C. ; Chiou, S. S. ; Kuo, Pao-Lin ; Shih, M. C. ; Chang, J. Y. ; Chang, J. G. / Molecular characterization of deletional forms of β-thalassemia in Taiwan. In: Annals of Hematology. 2003 ; Vol. 82, No. 1. pp. 33-36.
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Peng, CT, Liu, SC, Chiou, SS, Kuo, P-L, Shih, MC, Chang, JY & Chang, JG 2003, 'Molecular characterization of deletional forms of β-thalassemia in Taiwan', Annals of Hematology, vol. 82, no. 1, pp. 33-36.

Molecular characterization of deletional forms of β-thalassemia in Taiwan. / Peng, C. T.; Liu, S. C.; Chiou, S. S.; Kuo, Pao-Lin; Shih, M. C.; Chang, J. Y.; Chang, J. G.

In: Annals of Hematology, Vol. 82, No. 1, 01.01.2003, p. 33-36.

Research output: Contribution to journalArticle

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Peng CT, Liu SC, Chiou SS, Kuo P-L, Shih MC, Chang JY et al. Molecular characterization of deletional forms of β-thalassemia in Taiwan. Annals of Hematology. 2003 Jan 1;82(1):33-36.