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Article: Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

TitleShould we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?
Authors
KeywordsGenetic counselling
Globin gene mutation
Mean corpuscular volume
Screening
Thalassaemia
Issue Date2001
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Citation
Journal Of Clinical Pathology, 2001, v. 54 n. 4, p. 317-320 How to Cite?
AbstractAims - To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers. Methods - Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of α globin gene mutations and the haemoglobin (Hb) E mutation. Results - Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one α globin gene, one had Hb Constant Spring, and three had Hb E mutations. Conclusion - Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/β thalassaemia.
Persistent Identifierhttp://hdl.handle.net/10722/43612
ISSN
2015 Impact Factor: 2.912
2015 SCImago Journal Rankings: 1.260
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, LCen_HK
dc.contributor.authorMa, SKen_HK
dc.contributor.authorChan, AYYen_HK
dc.contributor.authorHa, SYen_HK
dc.contributor.authorWaye, JSen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorChui, DHKen_HK
dc.date.accessioned2007-03-23T04:50:19Z-
dc.date.available2007-03-23T04:50:19Z-
dc.date.issued2001en_HK
dc.identifier.citationJournal Of Clinical Pathology, 2001, v. 54 n. 4, p. 317-320en_HK
dc.identifier.issn0021-9746en_HK
dc.identifier.urihttp://hdl.handle.net/10722/43612-
dc.description.abstractAims - To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers. Methods - Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of α globin gene mutations and the haemoglobin (Hb) E mutation. Results - Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one α globin gene, one had Hb Constant Spring, and three had Hb E mutations. Conclusion - Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/β thalassaemia.en_HK
dc.format.extent1963869 bytes-
dc.format.extent26624 bytes-
dc.format.extent2213 bytes-
dc.format.extent3258 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.format.mimetypetext/plain-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/en_HK
dc.relation.ispartofJournal of Clinical Pathologyen_HK
dc.rightsJournal of Clinical Pathology. Copyright © B M J Publishing Group.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectGenetic counsellingen_HK
dc.subjectGlobin gene mutationen_HK
dc.subjectMean corpuscular volumeen_HK
dc.subjectScreeningen_HK
dc.subjectThalassaemiaen_HK
dc.subject.meshGlobins - geneticsen_HK
dc.subject.meshMass screening - utilizationen_HK
dc.subject.meshThalassemia - diagnosis - epidemiology - geneticsen_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshThailand - epidemiologyen_HK
dc.titleShould we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0021-9746&volume=54&issue=4&spage=317&epage=320&date=2001&atitle=Should+we+screen+for+globin+gene+mutations+in+blood+samples+with+mean+corpuscular+volume+(MCV)+greater+than+80+fL+in+areas+with+a+high+prevalence+of+thalassaemia?en_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jcp.54.4.317en_HK
dc.identifier.pmid11304851en_HK
dc.identifier.pmcidPMC1731396-
dc.identifier.scopuseid_2-s2.0-0035057577en_HK
dc.identifier.hkuros56630-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035057577&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume54en_HK
dc.identifier.issue4en_HK
dc.identifier.spage317en_HK
dc.identifier.epage320en_HK
dc.identifier.isiWOS:000167866200011-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, LC=7403540707en_HK
dc.identifier.scopusauthoridMa, SK=9042504200en_HK
dc.identifier.scopusauthoridChan, AYY=7403168182en_HK
dc.identifier.scopusauthoridHa, SY=7202501115en_HK
dc.identifier.scopusauthoridWaye, JS=7102825935en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridChui, DHK=7005111153en_HK

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