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Article: Hb A2 Hong Kong - A novel δ-globin variant in a chinese family masks the diagnosis of β-thalassemia trait
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TitleHb A2 Hong Kong - A novel δ-globin variant in a chinese family masks the diagnosis of β-thalassemia trait
 
AuthorsSo, CC1
Chan, AYY
Luo, HY3
Verhovsek, M3
Chui, DHK3
Ling, SC2
Chan, LC
 
Keywordsδ-Globin variant
Chinese
Masked β-thalassemia (β-thal)
 
Issue Date2011
 
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.asp
 
CitationHemoglobin, 2011, v. 35 n. 2, p. 162-165 [How to Cite?]
DOI: http://dx.doi.org/10.3109/03630269.2011.557172
 
AbstractA 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to a compound heterozygosity for β 0-thalassemia (β 0-thal) mutations. She was also found to have a low Hb A2 level of 1.6% by high performance liquid chromatography (HPLC) despite being a heterozygous carrier of the codons 41/42 (-TCTT) (HBB:c.126-129delCTTT) β 0-thal mutation. Doubling the amount of hemolysate loaded for chromatography revealed a widened Hb A2 peak and raised the level to 4.1%, consistent with β-thal trait. Direct nucleotide sequencing detected a novel δ-globin gene mutation at codon 29 (HBD:c.89G>A), which leads to a glycine to aspartic acid substitution. A homologous mutation at codon 29 in the β-globin gene [Hb Lufkin or β29(B11)Gly→Asp] has been reported in Black families. This report highlights the importance of genotype-phenotype correlation and the potential pitfall of relying on Hb A2 level for phenotypic diagnosis of β 0-thal trait. © 2011 Informa Healthcare USA, Inc.
 
ISSN0363-0269
2012 Impact Factor: 0.894
2012 SCImago Journal Rankings: 0.428
 
DOIhttp://dx.doi.org/10.3109/03630269.2011.557172
 
ISI Accession Number IDWOS:000288609800011
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorSo, CC
 
dc.contributor.authorChan, AYY
 
dc.contributor.authorLuo, HY
 
dc.contributor.authorVerhovsek, M
 
dc.contributor.authorChui, DHK
 
dc.contributor.authorLing, SC
 
dc.contributor.authorChan, LC
 
dc.date.accessioned2011-09-23T06:01:09Z
 
dc.date.available2011-09-23T06:01:09Z
 
dc.date.issued2011
 
dc.description.abstractA 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to a compound heterozygosity for β 0-thalassemia (β 0-thal) mutations. She was also found to have a low Hb A2 level of 1.6% by high performance liquid chromatography (HPLC) despite being a heterozygous carrier of the codons 41/42 (-TCTT) (HBB:c.126-129delCTTT) β 0-thal mutation. Doubling the amount of hemolysate loaded for chromatography revealed a widened Hb A2 peak and raised the level to 4.1%, consistent with β-thal trait. Direct nucleotide sequencing detected a novel δ-globin gene mutation at codon 29 (HBD:c.89G>A), which leads to a glycine to aspartic acid substitution. A homologous mutation at codon 29 in the β-globin gene [Hb Lufkin or β29(B11)Gly→Asp] has been reported in Black families. This report highlights the importance of genotype-phenotype correlation and the potential pitfall of relying on Hb A2 level for phenotypic diagnosis of β 0-thal trait. © 2011 Informa Healthcare USA, Inc.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationHemoglobin, 2011, v. 35 n. 2, p. 162-165 [How to Cite?]
DOI: http://dx.doi.org/10.3109/03630269.2011.557172
 
dc.identifier.doihttp://dx.doi.org/10.3109/03630269.2011.557172
 
dc.identifier.epage165
 
dc.identifier.hkuros192293
 
dc.identifier.isiWOS:000288609800011
 
dc.identifier.issn0363-0269
2012 Impact Factor: 0.894
2012 SCImago Journal Rankings: 0.428
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid21417575
 
dc.identifier.scopuseid_2-s2.0-79952949708
 
dc.identifier.spage162
 
dc.identifier.urihttp://hdl.handle.net/10722/139916
 
dc.identifier.volume35
 
dc.languageeng
 
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.asp
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofHemoglobin
 
dc.relation.referencesReferences in Scopus
 
dc.rightsHemoglobin. Copyright © Informa Healthcare.
 
dc.subject.meshCodon
 
dc.subject.meshHemoglobin A2 - genetics
 
dc.subject.meshMutation, Missense - genetics
 
dc.subject.meshbeta-Thalassemia - diagnosis - genetics
 
dc.subject.meshdelta-Globins - genetics
 
dc.subjectδ-Globin variant
 
dc.subjectChinese
 
dc.subjectMasked β-thalassemia (β-thal)
 
dc.titleHb A2 Hong Kong - A novel δ-globin variant in a chinese family masks the diagnosis of β-thalassemia trait
 
dc.typeArticle
 
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<contributor.author>Chui, DHK</contributor.author>
<contributor.author>Ling, SC</contributor.author>
<contributor.author>Chan, LC</contributor.author>
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<description.abstract>A 42-year-old Chinese woman (FP) was the mother of a patient with &#946;-thalassemia major (&#946;-TM) due to a compound heterozygosity for &#946; 0-thalassemia (&#946; 0-thal) mutations. She was also found to have a low Hb A2 level of 1.6% by high performance liquid chromatography (HPLC) despite being a heterozygous carrier of the codons 41/42 (-TCTT) (HBB:c.126-129delCTTT) &#946; 0-thal mutation. Doubling the amount of hemolysate loaded for chromatography revealed a widened Hb A2 peak and raised the level to 4.1%, consistent with &#946;-thal trait. Direct nucleotide sequencing detected a novel &#948;-globin gene mutation at codon 29 (HBD:c.89G&gt;A), which leads to a glycine to aspartic acid substitution. A homologous mutation at codon 29 in the &#946;-globin gene [Hb Lufkin or &#946;29(B11)Gly&#8594;Asp] has been reported in Black families. This report highlights the importance of genotype-phenotype correlation and the potential pitfall of relying on Hb A2 level for phenotypic diagnosis of &#946; 0-thal trait. &#169; 2011 Informa Healthcare USA, Inc.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. Boston University