Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand

Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand

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...

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Main Authors: Lukana Ngiwsara, Chantragan Srisomsap, Pranee Winichagoon, Suthat Fucharoen, Jisnuson Svasti
Other Authors: Chulabhorn Research Institute
Format: Article
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/21180
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spelling th-mahidol.211802018-07-24T10:50:50Z Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand Lukana Ngiwsara Chantragan Srisomsap Pranee Winichagoon Suthat Fucharoen Jisnuson Svasti Chulabhorn Research Institute Mahidol University Biochemistry, Genetics and Molecular Biology Medicine 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. 2018-07-24T03:37:23Z 2018-07-24T03:37:23Z 2004-06-04 Article Hemoglobin. Vol.28, No.2 (2004), 145-150 10.1081/HEM-120035913 03630269 2-s2.0-2442706560 https://repository.li.mahidol.ac.th/handle/123456789/21180 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=2442706560&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
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
description 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.
author2 Chulabhorn Research Institute
author_facet Chulabhorn Research Institute
Lukana Ngiwsara
Chantragan Srisomsap
Pranee Winichagoon
Suthat Fucharoen
Jisnuson Svasti
format Article
author Lukana Ngiwsara
Chantragan Srisomsap
Pranee Winichagoon
Suthat Fucharoen
Jisnuson Svasti
author_sort Lukana Ngiwsara
title Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
title_short Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
title_full Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
title_fullStr Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
title_full_unstemmed Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→ Asp (α1)] and α-thalassemia in Thailand
title_sort two cases of compound heterozygosity for hb hekinan [α27(b8)glu→ asp (α1)] and α-thalassemia in thailand
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/21180
_version_ 1763494768214540288

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