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Article: Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients

TitleSickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients
Authors
Issue Date2009
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105
Citation
American Journal Of Hematology, 2009, v. 84 n. 9, p. 603-606 How to Cite?
AbstractThe β-globin gene LCR is located ∼6 kb upstream of the embryonic ε-globin gene, and is made up of five DNase I hypersensitive sites (HSs), HS 1-5. LCR plays a pivotal role in regulating the expression of downstream ε-, Gγ-, Aγ-, δ-, and β-globin genes in cis [1]. Deletions removing the LCR and parts of the downstream β-globin gene cluster in patients have been described [2]. These individuals present with a (γδβ)0-thalassemia carrier phenotype. We now report two patients with severe sickle cell disease who were compound heterozygous for Hb S mutation and novel LCR deletion. In one case, HS 1-3 were deleted; in the other, HS 1-5 were deleted. In both cases, the β-like globin genes in cis to the LCR deletions were intact. Genotypically, both patients appeared to have sickle cell trait. Coinherited with either LCR deletion, these individuals presented as sickle cell disease patients. The breakpoints of these LCR deletions were defined. These results affirm that HS 2 and 3 are primarily responsible for conferring erythroid specific high-level expression of cis-linked β-like globin genes. Furthermore, LCR deletions might cause hemolytic disease of newborns.
Persistent Identifierhttp://hdl.handle.net/10722/148611
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKoenig, SCen_US
dc.contributor.authorBecirevic, Een_US
dc.contributor.authorHellberg, MSCen_US
dc.contributor.authorLi, MYen_US
dc.contributor.authorSo, JCCen_US
dc.contributor.authorHankins, JSen_US
dc.contributor.authorWare, REen_US
dc.contributor.authorMcmahon, Len_US
dc.contributor.authorSteinberg, MHen_US
dc.contributor.authorLuo, HYen_US
dc.contributor.authorChui, DHKen_US
dc.date.accessioned2012-05-29T06:14:06Z-
dc.date.available2012-05-29T06:14:06Z-
dc.date.issued2009en_US
dc.identifier.citationAmerican Journal Of Hematology, 2009, v. 84 n. 9, p. 603-606en_US
dc.identifier.issn0361-8609en_US
dc.identifier.urihttp://hdl.handle.net/10722/148611-
dc.description.abstractThe β-globin gene LCR is located ∼6 kb upstream of the embryonic ε-globin gene, and is made up of five DNase I hypersensitive sites (HSs), HS 1-5. LCR plays a pivotal role in regulating the expression of downstream ε-, Gγ-, Aγ-, δ-, and β-globin genes in cis [1]. Deletions removing the LCR and parts of the downstream β-globin gene cluster in patients have been described [2]. These individuals present with a (γδβ)0-thalassemia carrier phenotype. We now report two patients with severe sickle cell disease who were compound heterozygous for Hb S mutation and novel LCR deletion. In one case, HS 1-3 were deleted; in the other, HS 1-5 were deleted. In both cases, the β-like globin genes in cis to the LCR deletions were intact. Genotypically, both patients appeared to have sickle cell trait. Coinherited with either LCR deletion, these individuals presented as sickle cell disease patients. The breakpoints of these LCR deletions were defined. These results affirm that HS 2 and 3 are primarily responsible for conferring erythroid specific high-level expression of cis-linked β-like globin genes. Furthermore, LCR deletions might cause hemolytic disease of newborns.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105en_US
dc.relation.ispartofAmerican Journal of Hematologyen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAnemia, Sickle Cell - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobin, Sickle - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMultigene Familyen_US
dc.subject.meshSequence Deletionen_US
dc.subject.meshBeta-Globins - Geneticsen_US
dc.titleSickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patientsen_US
dc.typeArticleen_US
dc.identifier.emailSo, JCC:scc@pathology.hku.hken_US
dc.identifier.authoritySo, JCC=rp00391en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajh.21480en_US
dc.identifier.pmid19650141en_US
dc.identifier.scopuseid_2-s2.0-69549108056en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-69549108056&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume84en_US
dc.identifier.issue9en_US
dc.identifier.spage603en_US
dc.identifier.epage606en_US
dc.identifier.isiWOS:000269600300017-
dc.publisher.placeUnited Statesen_US
dc.identifier.citeulike6032578-

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