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Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand: Initiation codon mutation of α2-Globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)

Issued Date

2014-01-01

Resource Type

Article

ISSN

14219662
00015792

DOI

10.1159/000353119

Other identifier(s)

2-s2.0-84896113701

Rights

Mahidol University

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SCOPUS

Bibliographic Citation

Acta Haematologica. Vol.131, No.2 (2014), 88-94

Suggested Citation

Vip Viprakasit, Supachai Ekwattanakit, Nipon Chalaow, Suchada Riolueang, Sirirat Wijit, Porntep Tanyut, Nunthawut Chat-Uthai, Kalaya Tachavanich Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand: Initiation codon mutation of α2-Globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G). Acta Haematologica. Vol.131, No.2 (2014), 88-94. doi:10.1159/000353119 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/34583

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Title

Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand: Initiation codon mutation of α2-Globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)

Author(s)

Vip Viprakasit
 Supachai Ekwattanakit
 Nipon Chalaow
 Suchada Riolueang
 Sirirat Wijit
 Porntep Tanyut
 Nunthawut Chat-Uthai
 Kalaya Tachavanich

Other Contributor(s)

Mahidol University

Abstract

Alpha thalassemia is the most common genetic disease in the world with the prevalence of carriers ranging from 5-50% in several populations. Coinheritance of two defective α-globin genes usually gives rise to a symptomatic condition, hemoglobin (Hb) H disease. Previously, it has been suggested from several studies in different populations that nondeletional Hb H disease ( - /αTα or - /ααT) is generally more severe than the deletional type ( - /-α). In this report, we describe four rare nondeletional α-thalassemia mutations in Thai individuals, including initiation codon mutation (HBA2:c.1delA), donor splice site mutation (IVSI-1, HBA1:c.95 + 1G>A), Hb Queens Park (HBA1:c.98T>A) [α32(B13) Met>Lys], and Hb Westmead (HBA2:c.369C>G) [α122(H5)His>Gln]. Interactions of the first three mutations with the α0- thalassemia resulted in nondeletional Hb H disease; however, their clinical presentations were rather mild and some were detected accidentally. This suggests that a genotype-phenotype correlation of α-thalassemia syndrome might be more heterogeneous and so the type of mutation does not simply imply the prediction of the resulting phenotype. Our data will be of use in future genetic counseling of such conditions that are increasingly identified thanks to the improvement of molecular analysis in routine laboratories. © 2013 S. Karger AG, Basel.

Keyword(s)

Medicine

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URI

https://repository.li.mahidol.ac.th/handle/123456789/34583

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