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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

TitleDouble heterozygosity for Hb New York [β113 GTG→GAG; VAL→GLU] and β°-thalassemia mutations manifests as a thalassemia trait
Authors
Issue Date2008
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/08880018.asp
Citation
Pediatric Hematology And Oncology, 2008, v. 25 n. 3, p. 227-231 How to Cite?
Abstract
An 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.
Persistent Identifierhttp://hdl.handle.net/10722/148555
ISSN
2013 Impact Factor: 0.963
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong
  2. Tuen Mun Hospital
  3. East Shore Hospital
DC FieldValueLanguage
dc.contributor.authorLee, ACWen_US
dc.contributor.authorMa, ESKen_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorSzeto, SCen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:13:42Z-
dc.date.available2012-05-29T06:13:42Z-
dc.date.issued2008en_US
dc.identifier.citationPediatric Hematology And Oncology, 2008, v. 25 n. 3, p. 227-231en_US
dc.identifier.issn0888-0018en_US
dc.identifier.urihttp://hdl.handle.net/10722/148555-
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.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/08880018.aspen_US
dc.relation.ispartofPediatric Hematology and Oncologyen_US
dc.subject.meshAdulten_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobins, Abnormal - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshQuantitative Trait Loci - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Geneticsen_US
dc.titleDouble heterozygosity for Hb New York [β113 GTG→GAG; VAL→GLU] and β°-thalassemia mutations manifests as a thalassemia traiten_US
dc.typeArticleen_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1080/08880010801938199en_US
dc.identifier.pmid18432506en_US
dc.identifier.scopuseid_2-s2.0-42449141545en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-42449141545&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume25en_US
dc.identifier.issue3en_US
dc.identifier.spage227en_US
dc.identifier.epage231en_US
dc.identifier.isiWOS:000255274400009-
dc.publisher.placeUnited Kingdomen_US

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