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Article: Haemoglobin H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation: A family study

TitleHaemoglobin H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation: A family study
Authors
Ma, SKChan, AYYChiu, EKWChan, LC
KeywordsCodon 30 mutation
Genotype
Haemoglobin H disease
Phenotype
SEA deletion
Issue Date2001
Citation
Clinical And Laboratory Haematology, Supplement, 2001, v. 23 n. 5, p. 325-327 How to Cite?
DOI: http://dx.doi.org/10.1046/j.1365-2257.2001.00411.x
AbstractA Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with ζ-α-thal-1 and α2-codon 30 (ΔGAG) mutation, the ζ-globin genes are intact in the two siblings, which most probably alleviates the γ-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting.
Persistent Identifierhttp://hdl.handle.net/10722/148218
ISSN
0960-3964
ISI Accession Number ID
WOS:000172198600009
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorMa, SKen_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorChiu, EKWen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:11:34Z-
dc.date.available2012-05-29T06:11:34Z-
dc.date.issued2001en_US
dc.identifier.citationClinical And Laboratory Haematology, Supplement, 2001, v. 23 n. 5, p. 325-327en_US
dc.identifier.issn0960-3964en_US
dc.identifier.urihttp://hdl.handle.net/10722/148218-
dc.description.abstractA Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with ζ-α-thal-1 and α2-codon 30 (ΔGAG) mutation, the ζ-globin genes are intact in the two siblings, which most probably alleviates the γ-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting.en_US
dc.languageengen_US
dc.relation.ispartofClinical and Laboratory Haematology, Supplementen_US
dc.subjectCodon 30 mutation-
dc.subjectGenotype-
dc.subjectHaemoglobin H disease-
dc.subjectPhenotype-
dc.subjectSEA deletion-
dc.subject.meshAdulten_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlobins - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshLongevity - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshAlpha-Thalassemia - Geneticsen_US
dc.titleHaemoglobin H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation: A family studyen_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.doi10.1046/j.1365-2257.2001.00411.x-
dc.identifier.pmid11703416-
dc.identifier.scopuseid_2-s2.0-0034776806en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034776806&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume23en_US
dc.identifier.issue5en_US
dc.identifier.spage325en_US
dc.identifier.epage327en_US
dc.identifier.isiWOS:000172198600009-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.issnl0960-3964-

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