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, ACW1 3
Ma, ESK2
Chan, AYY2
Szeto, SC1
Chan, LC2
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
2011 Impact Factor: 0.891
2011 SCImago Journal Rankings: 0.091
DOIhttp://dx.doi.org/10.1080/08880010801938199
ISI Accession Number IDWOS:000255274400009
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 0.891
2011 SCImago Journal Rankings: 0.091
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
Author Affiliations
  1. Tuen Mun Hospital
  2. The University of Hong Kong
  3. East Shore Hospital