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- Scopus: eid_2-s2.0-0036213269
- PMID: 11940490
- WOS: WOS:000174775400017
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Article: The ( - SEA) α-thalassemia (SEA) deletion ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia
Title | 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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Authors | |
Keywords | α-thalassemia β-thalassemia Genotype-phenotype correlation SEA deletion Thalassemia intermedia |
Issue Date | 2002 |
Citation | Haematologica, 2002, v. 87 n. 4, p. 443-444 How to Cite? |
Abstract | Among 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. |
Persistent Identifier | http://hdl.handle.net/10722/148276 |
ISSN | 2023 Impact Factor: 8.2 2023 SCImago Journal Rankings: 2.490 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ma, ESK | en_HK |
dc.contributor.author | Chan, AYY | en_HK |
dc.contributor.author | Sau, YH | en_HK |
dc.contributor.author | Chan, GCF | en_HK |
dc.contributor.author | Wing, YA | en_HK |
dc.contributor.author | Li, CC | en_HK |
dc.date.accessioned | 2012-05-29T06:11:57Z | - |
dc.date.available | 2012-05-29T06:11:57Z | - |
dc.date.issued | 2002 | en_HK |
dc.identifier.citation | Haematologica, 2002, v. 87 n. 4, p. 443-444 | en_HK |
dc.identifier.issn | 0390-6078 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/148276 | - |
dc.description.abstract | Among 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. | en_HK |
dc.language | eng | en_US |
dc.relation.ispartof | Haematologica | en_HK |
dc.subject | α-thalassemia | en_HK |
dc.subject | β-thalassemia | en_HK |
dc.subject | Genotype-phenotype correlation | en_HK |
dc.subject | SEA deletion | en_HK |
dc.subject | Thalassemia intermedia | en_HK |
dc.subject.mesh | Age Of Onset | en_US |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Child, Preschool | en_US |
dc.subject.mesh | China - Epidemiology - Ethnology | en_US |
dc.subject.mesh | Genotype | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Sequence Deletion - Physiology | en_US |
dc.subject.mesh | Alpha-Thalassemia - Genetics | en_US |
dc.subject.mesh | Beta-Thalassemia - Genetics | en_US |
dc.title | The ( - SEA) α-thalassemia (SEA) deletion ameliorates the clinical phenotype of β0/β+ but not necessarily that of β0/β0 thalassemia | en_HK |
dc.type | Article | en_HK |
dc.identifier.email | Chan, GCF:gcfchan@hkucc.hku.hk | en_HK |
dc.identifier.email | Li, CC:chanlc@hkucc.hku.hk | en_HK |
dc.identifier.authority | Chan, GCF=rp00431 | en_HK |
dc.identifier.authority | Li, CC=rp00373 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.pmid | 11940490 | - |
dc.identifier.scopus | eid_2-s2.0-0036213269 | en_HK |
dc.identifier.hkuros | 66014 | - |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0036213269&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 87 | en_HK |
dc.identifier.issue | 4 | en_HK |
dc.identifier.spage | 443 | en_HK |
dc.identifier.epage | 444 | en_HK |
dc.identifier.isi | WOS:000174775400017 | - |
dc.publisher.place | Italy | en_HK |
dc.identifier.scopusauthorid | Ma, ESK=7202039934 | en_HK |
dc.identifier.scopusauthorid | Chan, AYY=7403168182 | en_HK |
dc.identifier.scopusauthorid | Sau, YH=7801690693 | en_HK |
dc.identifier.scopusauthorid | Chan, GCF=16160154400 | en_HK |
dc.identifier.scopusauthorid | Wing, YA=7004821181 | en_HK |
dc.identifier.scopusauthorid | Li, CC=7403540707 | en_HK |
dc.identifier.issnl | 0390-6078 | - |