Article: The ( - SEA) α-thalassemia (SEA) deletion ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia

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TitleThe ( - SEA) α-thalassemia (SEA) deletion ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia
AuthorsMa, ESK1
Chan, AYY1
Sau, YH1
Chan, GCF1
Wing, YA1
Li, CC1
Keywordsα-thalassemia
β-thalassemia
Genotype-phenotype correlation
SEA deletion
Thalassemia intermedia
Issue Date2002
CitationHaematologica, 2002, v. 87 n. 4, p. 443-444 [How to Cite?]
AbstractAmong 108 Chinese patients who showed two β-thalassemia alleles on genotyping, five out of six β0/β0-thalassemia patients who co-inherited the SEA deletion showed β-thalassemia major phenotype, whereas all five patients with β0/β+-thalassemia and concurrent SEA deletion showed β-thalassemia intermedia phenotype. The SEA deletion therefore ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia.
ISSN0390-6078
2011 Impact Factor: 6.424
2011 SCImago Journal Rankings: 0.681
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorMa, ESK
dc.contributor.authorChan, AYY
dc.contributor.authorSau, YH
dc.contributor.authorChan, GCF
dc.contributor.authorWing, YA
dc.contributor.authorLi, CC
dc.date.accessioned2012-05-29T06:11:57Z
dc.date.available2012-05-29T06:11:57Z
dc.date.issued2002
dc.description.abstractAmong 108 Chinese patients who showed two β-thalassemia alleles on genotyping, five out of six β0/β0-thalassemia patients who co-inherited the SEA deletion showed β-thalassemia major phenotype, whereas all five patients with β0/β+-thalassemia and concurrent SEA deletion showed β-thalassemia intermedia phenotype. The SEA deletion therefore ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationHaematologica, 2002, v. 87 n. 4, p. 443-444 [How to Cite?]
dc.identifier.epage444
dc.identifier.hkuros66014
dc.identifier.isiWOS:000174775400017
dc.identifier.issn0390-6078
2011 Impact Factor: 6.424
2011 SCImago Journal Rankings: 0.681
dc.identifier.issue4
dc.identifier.pmid11940490
dc.identifier.scopuseid_2-s2.0-0036213269
dc.identifier.spage443
dc.identifier.urihttp://hdl.handle.net/10722/148276
dc.identifier.volume87
dc.languageeng
dc.publisher.placeItaly
dc.relation.ispartofHaematologica
dc.relation.referencesReferences in Scopus
dc.subject.meshAge Of Onset
dc.subject.meshAlleles
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshChina - Epidemiology - Ethnology
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshPhenotype
dc.subject.meshSequence Deletion - Physiology
dc.subject.meshAlpha-Thalassemia - Genetics
dc.subject.meshBeta-Thalassemia - Genetics
dc.subjectα-thalassemia
dc.subjectβ-thalassemia
dc.subjectGenotype-phenotype correlation
dc.subjectSEA deletion
dc.subjectThalassemia intermedia
dc.titleThe ( - SEA) α-thalassemia (SEA) deletion ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong