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Article: Prenatal diagnosis of α- and β-thalassemias: Experience in Hong Kong

TitlePrenatal diagnosis of α- and β-thalassemias: Experience in Hong Kong
Authors
Issue Date1988
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.asp
Citation
Hemoglobin, 1988, v. 12 n. 5-6, p. 787-794 How to Cite?
AbstractThe incidence of α-thalassemia trait (α-thal-1 and α-thal-2) among Southern Chinese in Hong Kong is about 3%. From June 1983 to September 1987, prenatal diagnosis for homozygous α-thal-1 was performed in 88 pregnancies at risk, using direct DNA analysis of amniotic fluid cells or chorionic villi. Twenty-one homozygous α-thal-1 fetuses were aborted and confirmed as Hb Bart's hydrops fetalis, and two were 'Hb H' hydrops fetalis. Of 47 pregnancies delivered, 26 were α-thal-1 heterozygotes, 10 normal, eight α-thal-l/normal. Twenty-one pregnancies, diagnosed as α-thal-l/normal, await delivery. Based on a 6% incidence of β-thalassemia minor among pregnant women in Hong Kong, the number of pregnancies at risk for β-thalassemia major should be 288 per annum. However, since February 1984, only 25 diagnoses were performed. Comprehensive screening and education programs need to be implemented. The majority of β-thalassemia defects in Southern Chinese are point mutations, single nucleotide insertions or minor deletions, not detectable by standard gene mapping techniques. With linkage analysis of the defective gene to polymorphic restriction sites, a definitive diagnosis can be obtained in 50% of the families, while in the remaining there is a 50% exclusion rate. We routinely use the Hind III-3'β, Bam HI-3'β, Ava II-β, and Hinc II-ψβ sites for linkage analysis. For first pregnancies, the marked linkage disequilibrium of the Bam HI polymorphism can be applied in 29% of the cases. In nonconclusive cases, fetal blood β/γ globin chain synthetic ratio was used. Results to date include: seven β-thalassemia major (aborted), 10 β-thalassemia minor, two normals, and six β-thalassemia minor/normal pending delivery. Determination of four diferent mutations, detectable by oligonucleotide probes, would allow us in the future to diagnose 87% of the cases at risk for β-thalassemia major.
Persistent Identifierhttp://hdl.handle.net/10722/161748
ISSN
2015 Impact Factor: 0.747
2015 SCImago Journal Rankings: 0.389
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, TKen_US
dc.contributor.authorChan, Ven_US
dc.contributor.authorTodd, Den_US
dc.contributor.authorGhosh, Aen_US
dc.contributor.authorWong, LCen_US
dc.contributor.authorMa, HKen_US
dc.date.accessioned2012-09-05T05:14:38Z-
dc.date.available2012-09-05T05:14:38Z-
dc.date.issued1988en_US
dc.identifier.citationHemoglobin, 1988, v. 12 n. 5-6, p. 787-794en_US
dc.identifier.issn0363-0269en_US
dc.identifier.urihttp://hdl.handle.net/10722/161748-
dc.description.abstractThe incidence of α-thalassemia trait (α-thal-1 and α-thal-2) among Southern Chinese in Hong Kong is about 3%. From June 1983 to September 1987, prenatal diagnosis for homozygous α-thal-1 was performed in 88 pregnancies at risk, using direct DNA analysis of amniotic fluid cells or chorionic villi. Twenty-one homozygous α-thal-1 fetuses were aborted and confirmed as Hb Bart's hydrops fetalis, and two were 'Hb H' hydrops fetalis. Of 47 pregnancies delivered, 26 were α-thal-1 heterozygotes, 10 normal, eight α-thal-l/normal. Twenty-one pregnancies, diagnosed as α-thal-l/normal, await delivery. Based on a 6% incidence of β-thalassemia minor among pregnant women in Hong Kong, the number of pregnancies at risk for β-thalassemia major should be 288 per annum. However, since February 1984, only 25 diagnoses were performed. Comprehensive screening and education programs need to be implemented. The majority of β-thalassemia defects in Southern Chinese are point mutations, single nucleotide insertions or minor deletions, not detectable by standard gene mapping techniques. With linkage analysis of the defective gene to polymorphic restriction sites, a definitive diagnosis can be obtained in 50% of the families, while in the remaining there is a 50% exclusion rate. We routinely use the Hind III-3'β, Bam HI-3'β, Ava II-β, and Hinc II-ψβ sites for linkage analysis. For first pregnancies, the marked linkage disequilibrium of the Bam HI polymorphism can be applied in 29% of the cases. In nonconclusive cases, fetal blood β/γ globin chain synthetic ratio was used. Results to date include: seven β-thalassemia major (aborted), 10 β-thalassemia minor, two normals, and six β-thalassemia minor/normal pending delivery. Determination of four diferent mutations, detectable by oligonucleotide probes, would allow us in the future to diagnose 87% of the cases at risk for β-thalassemia major.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.aspen_US
dc.relation.ispartofHemoglobinen_US
dc.subject.meshFemaleen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshThalassemia - Diagnosisen_US
dc.titlePrenatal diagnosis of α- and β-thalassemias: Experience in Hong Kongen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.3109/03630268808991671-
dc.identifier.pmid3209416en_US
dc.identifier.scopuseid_2-s2.0-0023760494en_US
dc.identifier.volume12en_US
dc.identifier.issue5-6en_US
dc.identifier.spage787en_US
dc.identifier.epage794en_US
dc.identifier.isiWOS:A1988Q811100040-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US
dc.identifier.scopusauthoridGhosh, A=7403963873en_US
dc.identifier.scopusauthoridWong, LC=7402092003en_US
dc.identifier.scopusauthoridMa, HK=7403095603en_US

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