Publication: Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
Issued Date
2004-06-04
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ISSN
03630269
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2-s2.0-2442706560
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Mahidol University
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SCOPUS
Bibliographic Citation
Hemoglobin. Vol.28, No.2 (2004), 145-150
Suggested Citation
Lukana Ngiwsara, Chantragan Srisomsap, Pranee Winichagoon, Suthat Fucharoen, Jisnuson Svasti Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand. Hemoglobin. Vol.28, No.2 (2004), 145-150. doi:10.1081/HEM-120035913 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/21180
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Title
Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
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Abstract
Two unrelated cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→Asp (α1)] and α-thalassemia have been found in Thailand. Mutations were established at protein level by peptide mapping and at the DNA level by direct sequence analysis. Proband S.S. had genotypeSEA/α2Aα1Hekinan, βA/βE, while an unrelated proband, S.J., is the first case described with the genotypeSEA/α2Aα1Hekinan, βA/βA. Both α1Hekinanmutations were located in the α1 locus. Hb Hekinan could not be accurately estimated by HPLC, since it was poorly separated from Hb A. However IEF gave good separation of Hb Hekinan and Hb A, leading to estimates of Hb Hekinan (α2Hekinan/β2Aand α2Hekinan/β2E) level as 40-43% of total Hb.