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Article: The risk of α-thalassaemia in offspring of β-thalassaemia carriers in Hong Kong

TitleThe risk of α-thalassaemia in offspring of β-thalassaemia carriers in Hong Kong
Authors
Keywordsα-thalassaemia
β-thalassaemia
Prenatal diagnosis
Issue Date1997
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 1997, v. 17 n. 8, p. 733-736 How to Cite?
AbstractCouples in whom one is heterozygous for α-thalassaemia-1 and the other is heterozygous for β-thalassaemia are assumed not to be at risk of having offspring with homozygous α-thalassaemia-1 or homozygous β-thalassaemia. We retrospectively reviewed the genetic outcome of 189 pregnancies of 178 couples in whom the partners were diagnosed to be discordant heterozygotes of α-thalassaemia and β-thalassaemia on haematological tests. ζ gene mapping was performed on 158 β-thalassaemia carriers to diagnose the presence of co-existing α-thalassaemia-1. Eleven patients (7 per cent) were found to be compound α- and β-thalassaemia heterozygotes. They accounted for 16 pregnancies, of which five were diagnosed to be affected by homozygous α-thalassaemia-1. Our results show that couples presumed to be discordant heterozygotes of α- and β-thalassaemia on haematological testing are at risk of having offspring with homozygous α-thalassaemia-1 if the ζ gene mapping of the heterozygous β-thalassaemia partner shows co-inheritance of α-thalassaemia-1. Prenatal diagnosis of homozygous α-thalassaemia-1 should be performed on these at-risk pregnancies.
Persistent Identifierhttp://hdl.handle.net/10722/162185
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
References

 

DC FieldValueLanguage
dc.contributor.authorLam, YHen_HK
dc.contributor.authorGhosh, Aen_HK
dc.contributor.authorTang, MHYen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2012-09-05T05:17:53Z-
dc.date.available2012-09-05T05:17:53Z-
dc.date.issued1997en_HK
dc.identifier.citationPrenatal Diagnosis, 1997, v. 17 n. 8, p. 733-736en_HK
dc.identifier.issn0197-3851en_HK
dc.identifier.urihttp://hdl.handle.net/10722/162185-
dc.description.abstractCouples in whom one is heterozygous for α-thalassaemia-1 and the other is heterozygous for β-thalassaemia are assumed not to be at risk of having offspring with homozygous α-thalassaemia-1 or homozygous β-thalassaemia. We retrospectively reviewed the genetic outcome of 189 pregnancies of 178 couples in whom the partners were diagnosed to be discordant heterozygotes of α-thalassaemia and β-thalassaemia on haematological tests. ζ gene mapping was performed on 158 β-thalassaemia carriers to diagnose the presence of co-existing α-thalassaemia-1. Eleven patients (7 per cent) were found to be compound α- and β-thalassaemia heterozygotes. They accounted for 16 pregnancies, of which five were diagnosed to be affected by homozygous α-thalassaemia-1. Our results show that couples presumed to be discordant heterozygotes of α- and β-thalassaemia on haematological testing are at risk of having offspring with homozygous α-thalassaemia-1 if the ζ gene mapping of the heterozygous β-thalassaemia partner shows co-inheritance of α-thalassaemia-1. Prenatal diagnosis of homozygous α-thalassaemia-1 should be performed on these at-risk pregnancies.en_HK
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_HK
dc.relation.ispartofPrenatal Diagnosisen_HK
dc.subjectα-thalassaemiaen_HK
dc.subjectβ-thalassaemiaen_HK
dc.subjectPrenatal diagnosisen_HK
dc.subject.meshChromosome Mappingen_US
dc.subject.meshErythrocyte Indicesen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobins - Metabolismen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.subject.meshAlpha-Thalassemia - Diagnosis - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Geneticsen_US
dc.titleThe risk of α-thalassaemia in offspring of β-thalassaemia carriers in Hong Kongen_HK
dc.typeArticleen_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/(SICI)1097-0223(199708)17:8<733::AID-PD141>3.0.CO;2-Fen_HK
dc.identifier.pmid9267896en_HK
dc.identifier.scopuseid_2-s2.0-0030857933en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030857933&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume17en_HK
dc.identifier.issue8en_HK
dc.identifier.spage733en_HK
dc.identifier.epage736en_HK
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridLam, YH=7202563903en_HK
dc.identifier.scopusauthoridGhosh, A=7403963873en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

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