Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease

Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease

A rare nondeletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai boy with Hb H (β4) disease. The proband has α-thal-1 (- SEA type) together with a non productive Hb Queens Park (HBA1:c.98T > A) [α32(B13)Met→Lys] α1-globin variant. No abnormal hemoglobin (Hb) fraction was detected b...

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Main Authors: Suravee Sroymora, Sumalee Jindadamrongwech, Punnee Butthep, Suporn Chuncharunee
Other Authors: Mahidol University
Format: Article
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/13709
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spelling th-mahidol.137092018-06-11T12:09:59Z Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease Suravee Sroymora Sumalee Jindadamrongwech Punnee Butthep Suporn Chuncharunee Mahidol University Faculty of Medicine, Ramathibodi Hospital, Mahidol University Biochemistry, Genetics and Molecular Biology Medicine A rare nondeletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai boy with Hb H (β4) disease. The proband has α-thal-1 (- SEA type) together with a non productive Hb Queens Park (HBA1:c.98T > A) [α32(B13)Met→Lys] α1-globin variant. No abnormal hemoglobin (Hb) fraction was detected by high performance liquid chromatography (HPLC). The clinical effect of this mutation in the proband was comparable to that of deletional α-thal-2 present in Hb H disease. Copyright © Informa Healthcare USA, Inc. 2018-06-11T04:36:25Z 2018-06-11T04:36:25Z 2012-06-01 Article Hemoglobin. Vol.36, No.3 (2012), 293-298 10.3109/03630269.2012.658939 1532432X 03630269 2-s2.0-84860786091 https://repository.li.mahidol.ac.th/handle/123456789/13709 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84860786091&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
Suravee Sroymora
Sumalee Jindadamrongwech
Punnee Butthep
Suporn Chuncharunee
Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
description A rare nondeletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai boy with Hb H (β4) disease. The proband has α-thal-1 (- SEA type) together with a non productive Hb Queens Park (HBA1:c.98T > A) [α32(B13)Met→Lys] α1-globin variant. No abnormal hemoglobin (Hb) fraction was detected by high performance liquid chromatography (HPLC). The clinical effect of this mutation in the proband was comparable to that of deletional α-thal-2 present in Hb H disease. Copyright © Informa Healthcare USA, Inc.
author2 Mahidol University
author_facet Mahidol University
Suravee Sroymora
Sumalee Jindadamrongwech
Punnee Butthep
Suporn Chuncharunee
format Article
author Suravee Sroymora
Sumalee Jindadamrongwech
Punnee Butthep
Suporn Chuncharunee
author_sort Suravee Sroymora
title Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
title_short Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
title_full Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
title_fullStr Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
title_full_unstemmed Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease
title_sort nondeletional hb queens park [α32(b13)met→lys]/hb h (β4) disease
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/13709
_version_ 1763496886394683392

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