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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

TitleHb A2 Hong Kong - A novel δ-globin variant in a chinese family masks the diagnosis of β-thalassemia trait
Authors
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
Citation
Hemoglobin, 2011, v. 35 n. 2, p. 162-165 How to Cite?
Abstract
A 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.
Persistent Identifierhttp://hdl.handle.net/10722/139916
ISSN
2013 Impact Factor: 0.955
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. Boston University
DC FieldValueLanguage
dc.contributor.authorSo, CCen_HK
dc.contributor.authorChan, AYYen_HK
dc.contributor.authorLuo, HYen_HK
dc.contributor.authorVerhovsek, Men_HK
dc.contributor.authorChui, DHKen_HK
dc.contributor.authorLing, SCen_HK
dc.contributor.authorChan, LCen_HK
dc.date.accessioned2011-09-23T06:01:09Z-
dc.date.available2011-09-23T06:01:09Z-
dc.date.issued2011en_HK
dc.identifier.citationHemoglobin, 2011, v. 35 n. 2, p. 162-165en_HK
dc.identifier.issn0363-0269en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139916-
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.en_HK
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.aspen_HK
dc.relation.ispartofHemoglobinen_HK
dc.rightsHemoglobin. Copyright © Informa Healthcare.-
dc.subjectδ-Globin varianten_HK
dc.subjectChineseen_HK
dc.subjectMasked β-thalassemia (β-thal)en_HK
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.titleHb A2 Hong Kong - A novel δ-globin variant in a chinese family masks the diagnosis of β-thalassemia traiten_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0363-0269&volume=35&issue=2&spage=162&epage=165&date=2011&atitle=Hb+A2+Hong+Kong:+a+novel+δ-globin+variant+in+a+Chinese+family+masks+the+diagnosis+of+β-thalassemia+trait-
dc.identifier.emailSo, CC:scc@pathology.hku.hken_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.authoritySo, CC=rp00391en_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.3109/03630269.2011.557172en_HK
dc.identifier.pmid21417575en_HK
dc.identifier.scopuseid_2-s2.0-79952949708en_HK
dc.identifier.hkuros192293en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79952949708&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume35en_HK
dc.identifier.issue2en_HK
dc.identifier.spage162en_HK
dc.identifier.epage165en_HK
dc.identifier.isiWOS:000288609800011-
dc.publisher.placeUnited Kingdomen_HK

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