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Article: Double heterozygosity for Hb New York [β113 GTG→GAG; VAL→GLU] and β°-thalassemia mutations manifests as a thalassemia trait
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TitleDouble heterozygosity for Hb New York [β113 GTG→GAG; VAL→GLU] and β°-thalassemia mutations manifests as a thalassemia trait
 
AuthorsLee, ACW2 3
Ma, ESK1
Chan, AYY1
Szeto, SC2
Chan, LC1
 
Issue Date2008
 
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/08880018.asp
 
CitationPediatric Hematology And Oncology, 2008, v. 25 n. 3, p. 227-231 [How to Cite?]
DOI: http://dx.doi.org/10.1080/08880010801938199
 
AbstractAn extended family with three individuals affected by two different forms of double heterozygosity for β-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [β113 GTG→GAG; VAL→GLU] and β° codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and β° IVSII-654. Both adults had clinical and hematological features consistent with β-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and β° thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally. Copyright © Informa Healthcare USA, Inc.
 
ISSN0888-0018
2012 Impact Factor: 0.895
2012 SCImago Journal Rankings: 0.327
 
DOIhttp://dx.doi.org/10.1080/08880010801938199
 
ISI Accession Number IDWOS:000255274400009
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLee, ACW
 
dc.contributor.authorMa, ESK
 
dc.contributor.authorChan, AYY
 
dc.contributor.authorSzeto, SC
 
dc.contributor.authorChan, LC
 
dc.date.accessioned2012-05-29T06:13:42Z
 
dc.date.available2012-05-29T06:13:42Z
 
dc.date.issued2008
 
dc.description.abstractAn extended family with three individuals affected by two different forms of double heterozygosity for β-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [β113 GTG→GAG; VAL→GLU] and β° codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and β° IVSII-654. Both adults had clinical and hematological features consistent with β-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and β° thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally. Copyright © Informa Healthcare USA, Inc.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationPediatric Hematology And Oncology, 2008, v. 25 n. 3, p. 227-231 [How to Cite?]
DOI: http://dx.doi.org/10.1080/08880010801938199
 
dc.identifier.doihttp://dx.doi.org/10.1080/08880010801938199
 
dc.identifier.epage231
 
dc.identifier.isiWOS:000255274400009
 
dc.identifier.issn0888-0018
2012 Impact Factor: 0.895
2012 SCImago Journal Rankings: 0.327
 
dc.identifier.issue3
 
dc.identifier.pmid18432506
 
dc.identifier.scopuseid_2-s2.0-42449141545
 
dc.identifier.spage227
 
dc.identifier.urihttp://hdl.handle.net/10722/148555
 
dc.identifier.volume25
 
dc.languageeng
 
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/08880018.asp
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofPediatric Hematology and Oncology
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshFemale
 
dc.subject.meshHemoglobins, Abnormal - Genetics
 
dc.subject.meshHeterozygote
 
dc.subject.meshHumans
 
dc.subject.meshInfant, Newborn
 
dc.subject.meshMale
 
dc.subject.meshMutation
 
dc.subject.meshQuantitative Trait Loci - Genetics
 
dc.subject.meshBeta-Thalassemia - Genetics
 
dc.titleDouble heterozygosity for Hb New York [β113 GTG→GAG; VAL→GLU] and β°-thalassemia mutations manifests as a thalassemia trait
 
dc.typeArticle
 
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<contributor.author>Chan, AYY</contributor.author>
<contributor.author>Szeto, SC</contributor.author>
<contributor.author>Chan, LC</contributor.author>
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Author Affiliations
  1. The University of Hong Kong
  2. Tuen Mun Hospital
  3. East Shore Hospital