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Article: The prevalence and molecular basis of hemoglobinopathies in Cambodia

TitleThe prevalence and molecular basis of hemoglobinopathies in Cambodia
Authors
Keywordsα-Thalassemia (thal)
β-Thalassemia (thal)
Cambodia
Hemoglobinopathies
Issue Date2006
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.asp
Citation
Hemoglobin, 2006, v. 30 n. 4, p. 463-470 How to Cite?
AbstractBlood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. α-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -α 3.7 gene deletion was the most common α-globin gene abnormality. The - - SEA deletion and nondeletional forms of α-thal, Hb Constant Spring [Hb CS, α142, Term→Gln, TA→CAA (α2)], Hb Paksé [α142, Term→Tyr, TAA→TAT (α2)] and triplicated α genes, were also present but at low frequencies. Hb E [β26(B8)Glu→Lys, GAG→AAG] (28.8%) was the most common β-globin gene abnormality, whilst β-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -α 3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia. Copyright © Informa Healthcare.
Persistent Identifierhttp://hdl.handle.net/10722/78073
ISSN
2015 Impact Factor: 0.747
2015 SCImago Journal Rankings: 0.389
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCarnley, BPen_HK
dc.contributor.authorPrior, JFen_HK
dc.contributor.authorGilbert, Aen_HK
dc.contributor.authorLim, Een_HK
dc.contributor.authorDevenish, Ren_HK
dc.contributor.authorSing, Hen_HK
dc.contributor.authorSarin, Een_HK
dc.contributor.authorGuhadasan, Ren_HK
dc.contributor.authorSullivan, SGen_HK
dc.contributor.authorWise, CAen_HK
dc.contributor.authorBittles, AHen_HK
dc.contributor.authorChan, Ken_HK
dc.contributor.authorWong, MSen_HK
dc.contributor.authorChan, Ven_HK
dc.contributor.authorErber, WNen_HK
dc.date.accessioned2010-09-06T07:38:52Z-
dc.date.available2010-09-06T07:38:52Z-
dc.date.issued2006en_HK
dc.identifier.citationHemoglobin, 2006, v. 30 n. 4, p. 463-470en_HK
dc.identifier.issn0363-0269en_HK
dc.identifier.urihttp://hdl.handle.net/10722/78073-
dc.description.abstractBlood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. α-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -α 3.7 gene deletion was the most common α-globin gene abnormality. The - - SEA deletion and nondeletional forms of α-thal, Hb Constant Spring [Hb CS, α142, Term→Gln, TA→CAA (α2)], Hb Paksé [α142, Term→Tyr, TAA→TAT (α2)] and triplicated α genes, were also present but at low frequencies. Hb E [β26(B8)Glu→Lys, GAG→AAG] (28.8%) was the most common β-globin gene abnormality, whilst β-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -α 3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia. Copyright © Informa Healthcare.en_HK
dc.languageengen_HK
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.aspen_HK
dc.relation.ispartofHemoglobinen_HK
dc.rightsHemoglobin. Copyright © Informa Healthcare.en_HK
dc.subjectα-Thalassemia (thal)en_HK
dc.subjectβ-Thalassemia (thal)en_HK
dc.subjectCambodiaen_HK
dc.subjectHemoglobinopathiesen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshBlood Cell Counten_HK
dc.subject.meshCambodia - epidemiologyen_HK
dc.subject.meshChilden_HK
dc.subject.meshChild, Preschoolen_HK
dc.subject.meshChromatography, High Pressure Liquiden_HK
dc.subject.meshCross-Sectional Studiesen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGlobins - geneticsen_HK
dc.subject.meshHemoglobin E - geneticsen_HK
dc.subject.meshHemoglobins, Abnormal - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshInfanten_HK
dc.subject.meshMaleen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshPrevalenceen_HK
dc.subject.meshSequence Analysis, DNAen_HK
dc.subject.meshalpha-Thalassemia - epidemiology - geneticsen_HK
dc.subject.meshbeta-Thalassemia - epidemiology - geneticsen_HK
dc.titleThe prevalence and molecular basis of hemoglobinopathies in Cambodiaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0363-0269&volume=4&spage=463&epage=470&date=2006&atitle=The+prevalence+and+molecular+basis+of+hemoglobinopathies+in+Cambodia.en_HK
dc.identifier.emailChan, K: kaimin@hkucc.hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, K=rp00489en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1080/03630260600868071en_HK
dc.identifier.pmid16987801-
dc.identifier.scopuseid_2-s2.0-33748939066en_HK
dc.identifier.hkuros123302en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33748939066&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume30en_HK
dc.identifier.issue4en_HK
dc.identifier.spage463en_HK
dc.identifier.epage470en_HK
dc.identifier.isiWOS:000240636900006-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridCarnley, BP=14627313600en_HK
dc.identifier.scopusauthoridPrior, JF=7103261767en_HK
dc.identifier.scopusauthoridGilbert, A=7201514729en_HK
dc.identifier.scopusauthoridLim, E=7201710092en_HK
dc.identifier.scopusauthoridDevenish, R=7006065975en_HK
dc.identifier.scopusauthoridSing, H=35773840000en_HK
dc.identifier.scopusauthoridSarin, E=35773738500en_HK
dc.identifier.scopusauthoridGuhadasan, R=8569598500en_HK
dc.identifier.scopusauthoridSullivan, SG=7202445287en_HK
dc.identifier.scopusauthoridWise, CA=7102100005en_HK
dc.identifier.scopusauthoridBittles, AH=35585857300en_HK
dc.identifier.scopusauthoridChan, K=7406032228en_HK
dc.identifier.scopusauthoridWong, MS=35773949100en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridErber, WN=7005668153en_HK

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