Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia

© 2018 Elsevier Inc. Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A2 level. Borderline Hb A2 levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A2 in northern Thailand and studied the effects...

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Main Authors: Phumin Chaweephisal, Arunee Phusua, Kanda Fanhchaksai, Supatra Sirichotiyakul, Pimlak Charoenkwan
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/62904
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spelling th-cmuir.6653943832-629042018-12-14T03:41:41Z Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia Phumin Chaweephisal Arunee Phusua Kanda Fanhchaksai Supatra Sirichotiyakul Pimlak Charoenkwan Biochemistry, Genetics and Molecular Biology Medicine © 2018 Elsevier Inc. Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A2 level. Borderline Hb A2 levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A2 in northern Thailand and studied the effects of coinherited alpha0-thalassemia on Hb A2 levels. Methods: Blood samples with Hb A2 3.1–10.0% from 2193 samples submitted for prenatal thalassemia screening were selected. Information on HBB genotypes and coinherited alpha0-thalassemia were collected. All samples with unknown HBB genotypes underwent an automated DNA sequencing. The Hb A2 levels were compared according to the coinherited alpha0-thalassemia. Results: HBB mutations were found in 298 (98.7%) of 302 samples with Hb A2 4.0–10.0%. In the 106 samples with Hb A2 3.1–3.9%, six had HBB mutations; four Hb Dhonburi [codon 126 (T > G)], one CAP site mutation [CAP + 1 (A > C)] and one beta0-thalassemia [codon 41/42 (-TTCT)] with a coinherited HBD mutation [nt-77 (T > C)]. The Hb A2 levels in beta-thalassemia carriers with and without coinherited alpha0-thalassemia were not significantly different. Conclusions: HBB mutations in northern Thais with borderline Hb A2 levels comprise an unstable variant Hb Dhonburi and CAP + 1 (A > C) mutation. Coinherited HBD mutation lowers Hb A2 and can cause a misidentification of a beta-thalassemia carrier. 2018-12-14T03:40:42Z 2018-12-14T03:40:42Z 2019-02-01 Journal 10960961 10799796 2-s2.0-85054428519 10.1016/j.bcmd.2018.10.002 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85054428519&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/62904
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Phumin Chaweephisal
Arunee Phusua
Kanda Fanhchaksai
Supatra Sirichotiyakul
Pimlak Charoenkwan
Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
description © 2018 Elsevier Inc. Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A2 level. Borderline Hb A2 levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A2 in northern Thailand and studied the effects of coinherited alpha0-thalassemia on Hb A2 levels. Methods: Blood samples with Hb A2 3.1–10.0% from 2193 samples submitted for prenatal thalassemia screening were selected. Information on HBB genotypes and coinherited alpha0-thalassemia were collected. All samples with unknown HBB genotypes underwent an automated DNA sequencing. The Hb A2 levels were compared according to the coinherited alpha0-thalassemia. Results: HBB mutations were found in 298 (98.7%) of 302 samples with Hb A2 4.0–10.0%. In the 106 samples with Hb A2 3.1–3.9%, six had HBB mutations; four Hb Dhonburi [codon 126 (T > G)], one CAP site mutation [CAP + 1 (A > C)] and one beta0-thalassemia [codon 41/42 (-TTCT)] with a coinherited HBD mutation [nt-77 (T > C)]. The Hb A2 levels in beta-thalassemia carriers with and without coinherited alpha0-thalassemia were not significantly different. Conclusions: HBB mutations in northern Thais with borderline Hb A2 levels comprise an unstable variant Hb Dhonburi and CAP + 1 (A > C) mutation. Coinherited HBD mutation lowers Hb A2 and can cause a misidentification of a beta-thalassemia carrier.
format Journal
author Phumin Chaweephisal
Arunee Phusua
Kanda Fanhchaksai
Supatra Sirichotiyakul
Pimlak Charoenkwan
author_facet Phumin Chaweephisal
Arunee Phusua
Kanda Fanhchaksai
Supatra Sirichotiyakul
Pimlak Charoenkwan
author_sort Phumin Chaweephisal
title Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
title_short Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
title_full Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
title_fullStr Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
title_full_unstemmed Borderline hemoglobin A<inf>2</inf> levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
title_sort borderline hemoglobin a<inf>2</inf> levels in northern thai population: hbb genotypes and effects of coinherited alpha-thalassemia
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85054428519&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/62904
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