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Article: Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong

TitleVariation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong
Authors
Issue Date2008
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, 2008, v. 83 n. 6, p. 458-464 How to Cite?
AbstractEnhanced fetal hemoglobin (Hb F) production can partially compensate for the lack of adult hemoglobin (Hb A) in patients with β-thalassemia major or intermedia, and ameliorate the clinical severity of these diseases. To further elucidate factors governing Hb F levels, we evaluated demographic, clinical, laboratory, and genetic characteristics in 241 unrelated adult β-thalassemia carriers in Hong Kong. They had wide variations in Hb F and F-cell numbers skewing toward higher levels. Individuals who coinherited the Xmn I T-allele in the Gγ-globin gene promoter had higher Hb F and more F-cells compared with those lacking the Xmn I T-allele. However, both groups exhibited a similarly wide spread of Hb F and F-cells. The correlation of Hb F and F-cells corresponded well to both linear and exponential models, suggesting multiple mechanisms for Hb F augmentation. The heritabilities of Hb F and F-cells were calculated in 66 families (111 parents who were β-thalassemia carriers and 82 asymptomatic offspring) to be 0.7 to 0.9. The Xmn I polymorphism accounted for 9% of the Hb F and 13% of the F-cell heritabilities. These results suggest that these family members are well suited for genome wide association studies that will identify genetic loci regulating Hb F production, and likely novel pharmacological targets for reactivating Hb F production in adults. © 2008 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148563
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGibney, GTen_US
dc.contributor.authorPanhuysen, CIMen_US
dc.contributor.authorSo, JCCen_US
dc.contributor.authorMa, ESKen_US
dc.contributor.authorShau, YHen_US
dc.contributor.authorChi, KLen_US
dc.contributor.authorLee, ACWen_US
dc.contributor.authorChi, KLen_US
dc.contributor.authorHui, LYen_US
dc.contributor.authorYu, LLen_US
dc.contributor.authorJohnson, DMen_US
dc.contributor.authorFarrell, JJen_US
dc.contributor.authorBisbee, ABen_US
dc.contributor.authorFarrer, LAen_US
dc.contributor.authorSteinberg, MHen_US
dc.contributor.authorLi, CCen_US
dc.contributor.authorChui, DHKen_US
dc.date.accessioned2012-05-29T06:13:45Z-
dc.date.available2012-05-29T06:13:45Z-
dc.date.issued2008en_US
dc.identifier.citationAmerican Journal Of Hematology, 2008, v. 83 n. 6, p. 458-464en_US
dc.identifier.issn0361-8609en_US
dc.identifier.urihttp://hdl.handle.net/10722/148563-
dc.description.abstractEnhanced fetal hemoglobin (Hb F) production can partially compensate for the lack of adult hemoglobin (Hb A) in patients with β-thalassemia major or intermedia, and ameliorate the clinical severity of these diseases. To further elucidate factors governing Hb F levels, we evaluated demographic, clinical, laboratory, and genetic characteristics in 241 unrelated adult β-thalassemia carriers in Hong Kong. They had wide variations in Hb F and F-cell numbers skewing toward higher levels. Individuals who coinherited the Xmn I T-allele in the Gγ-globin gene promoter had higher Hb F and more F-cells compared with those lacking the Xmn I T-allele. However, both groups exhibited a similarly wide spread of Hb F and F-cells. The correlation of Hb F and F-cells corresponded well to both linear and exponential models, suggesting multiple mechanisms for Hb F augmentation. The heritabilities of Hb F and F-cells were calculated in 66 families (111 parents who were β-thalassemia carriers and 82 asymptomatic offspring) to be 0.7 to 0.9. The Xmn I polymorphism accounted for 9% of the Hb F and 13% of the F-cell heritabilities. These results suggest that these family members are well suited for genome wide association studies that will identify genetic loci regulating Hb F production, and likely novel pharmacological targets for reactivating Hb F production in adults. © 2008 Wiley-Liss, Inc.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.rightsAmerican Journal of Hematology. Copyright © John Wiley & Sons, Inc.-
dc.subject.meshDeoxyribonucleases, Type Ii Site-Specificen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFetal Hemoglobin - Analysisen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInheritance Patternsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPromoter Regions, Geneticen_US
dc.subject.meshBeta-Thalassemia - Blood - Epidemiology - Geneticsen_US
dc.titleVariation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kongen_US
dc.typeArticleen_US
dc.identifier.emailSo, JCC:scc@pathology.hku.hken_US
dc.identifier.emailLi, CC:chanlc@hkucc.hku.hken_US
dc.identifier.authoritySo, JCC=rp00391en_US
dc.identifier.authorityLi, CC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajh.21150en_US
dc.identifier.pmid18266208en_US
dc.identifier.scopuseid_2-s2.0-44349152295en_US
dc.identifier.hkuros150141-
dc.identifier.hkuros159113-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-44349152295&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume83en_US
dc.identifier.issue6en_US
dc.identifier.spage458en_US
dc.identifier.epage464en_US
dc.identifier.eissn1096-8652-
dc.identifier.isiWOS:000256205000006-
dc.publisher.placeUnited Statesen_US

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