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Article: Molecular defects in Hb H hydrops fetalis

TitleMolecular defects in Hb H hydrops fetalis
Authors
Keywordsα thalassaemia
Hb H hydrops
molecular defect
Issue Date1997
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 1997, v. 96 n. 2, p. 224-228 How to Cite?
AbstractThe molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the α 2 gene: at codon 30 (ΔGAG, Glu) and codon 59 (G → A, Gly → Asp) respectively, and a ζ-α thalassaemia (thal) 1 or α thal 1 genotype. These two non-deletion defects, unlike previously described cases, resulted in severe anaemia of the fetuses and emphasize the importance of performing prenatal diagnosis for these families.
Persistent Identifierhttp://hdl.handle.net/10722/78684
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorChan, VWYen_HK
dc.contributor.authorTang, Men_HK
dc.contributor.authorLau, Ken_HK
dc.contributor.authorTodd, Den_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:45:35Z-
dc.date.available2010-09-06T07:45:35Z-
dc.date.issued1997en_HK
dc.identifier.citationBritish Journal Of Haematology, 1997, v. 96 n. 2, p. 224-228en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/78684-
dc.description.abstractThe molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the α 2 gene: at codon 30 (ΔGAG, Glu) and codon 59 (G → A, Gly → Asp) respectively, and a ζ-α thalassaemia (thal) 1 or α thal 1 genotype. These two non-deletion defects, unlike previously described cases, resulted in severe anaemia of the fetuses and emphasize the importance of performing prenatal diagnosis for these families.en_HK
dc.languageengen_HK
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_HK
dc.relation.ispartofBritish Journal of Haematologyen_HK
dc.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.en_HK
dc.subjectα thalassaemiaen_HK
dc.subjectHb H hydropsen_HK
dc.subjectmolecular defecten_HK
dc.subject.meshGene Deletionen_HK
dc.subject.meshGlobins - geneticsen_HK
dc.subject.meshHemoglobin H - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshHydrops Fetalis - blood - diagnosis - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshPrenatal Diagnosis - methodsen_HK
dc.titleMolecular defects in Hb H hydrops fetalisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0007-1048&volume=96&spage=224&epage=228&date=1997&atitle=Molecular+defects+in+Hb+H+hydrops+fetalisen_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityTang, M=rp01701en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid9029003-
dc.identifier.scopuseid_2-s2.0-0031053941en_HK
dc.identifier.hkuros22986en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031053941&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume96en_HK
dc.identifier.issue2en_HK
dc.identifier.spage224en_HK
dc.identifier.epage228en_HK
dc.identifier.isiWOS:A1997WH70400002-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridChan, VWY=36896382500en_HK
dc.identifier.scopusauthoridTang, M=8943401300en_HK
dc.identifier.scopusauthoridLau, K=35205833900en_HK
dc.identifier.scopusauthoridTodd, D=7201388182en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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