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Article: Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening

TitlePrevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening
Authors
Issue Date1997
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Citation
New England Journal Of Medicine, 1997, v. 336 n. 18, p. 1298-1301 How to Cite?
AbstractBackground: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program. Methods: An educational and screening program for the thalassemias was carried out in three high schools with a total of 2420 students. Seventy- five percent of the students agreed to undergo screening, which consisted of blood counts, hemoglobin electrophoresis, serum ferritin measurements, and DNA analyses. Results: Of the 1800 blood samples tested, 150 (8.3 percent) had microcytosis (mean corpuscular volume, <80 μm3). Ninety students (5.0 percent) were carriers of α-thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both α-globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either β-thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both α- and β-thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous α-thalassemia and β-thalassemia major or intermedia are 145 and 80 per year, respectively. In Hong Kong the actual numbers of women referred for prenatal diagnoses of these disorders are approximately 95 and 40 per year, respectively. Conclusions: Despite the availability of hospital-based screening and prenatal diagnosis for many years in Hong Kong, many women carrying fetuses at risk for thalassemia are not referred for genetic counseling. A community-based program of education, screening, and counseling is needed in Hong Kong and southern China.
Persistent Identifierhttp://hdl.handle.net/10722/45210
ISSN
2015 Impact Factor: 59.558
2015 SCImago Journal Rankings: 14.619
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLau, YLen_HK
dc.contributor.authorChan, LCen_HK
dc.contributor.authorChan, YYAen_HK
dc.contributor.authorHa, SYen_HK
dc.contributor.authorYeung, CYen_HK
dc.contributor.authorWaye, JSen_HK
dc.contributor.authorChui, DHKen_HK
dc.date.accessioned2007-10-30T06:19:58Z-
dc.date.available2007-10-30T06:19:58Z-
dc.date.issued1997en_HK
dc.identifier.citationNew England Journal Of Medicine, 1997, v. 336 n. 18, p. 1298-1301en_HK
dc.identifier.issn0028-4793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45210-
dc.description.abstractBackground: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program. Methods: An educational and screening program for the thalassemias was carried out in three high schools with a total of 2420 students. Seventy- five percent of the students agreed to undergo screening, which consisted of blood counts, hemoglobin electrophoresis, serum ferritin measurements, and DNA analyses. Results: Of the 1800 blood samples tested, 150 (8.3 percent) had microcytosis (mean corpuscular volume, <80 μm3). Ninety students (5.0 percent) were carriers of α-thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both α-globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either β-thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both α- and β-thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous α-thalassemia and β-thalassemia major or intermedia are 145 and 80 per year, respectively. In Hong Kong the actual numbers of women referred for prenatal diagnoses of these disorders are approximately 95 and 40 per year, respectively. Conclusions: Despite the availability of hospital-based screening and prenatal diagnosis for many years in Hong Kong, many women carrying fetuses at risk for thalassemia are not referred for genetic counseling. A community-based program of education, screening, and counseling is needed in Hong Kong and southern China.en_HK
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dc.format.mimetypeapplication/pdf-
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dc.languageengen_HK
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/en_HK
dc.relation.ispartofNew England Journal of Medicineen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsNew England Journal of Medicine. Copyright © Massachusetts Medical Society.en_HK
dc.subject.meshalpha-Thalassemia-epidemiologyen_HK
dc.subject.meshbeta-Thalassemia-epidemiologyen_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshHong Kong - epidemiologyen_HK
dc.subject.meshMass screeningen_HK
dc.subject.meshPrenatal diagnosisen_HK
dc.titlePrevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screeningen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0028-4793&volume=336&issue=18&spage=1298&epage=1301&date=1997&atitle=Prevalence+and+genotypes+of+alpha-+and+beta-thalassemia+carriers+in+Hong+Kong+--+implications+for+population+screeningen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1056/NEJM199705013361805en_HK
dc.identifier.pmid9113933-
dc.identifier.scopuseid_2-s2.0-0030905118en_HK
dc.identifier.hkuros121417-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030905118&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume336en_HK
dc.identifier.issue18en_HK
dc.identifier.spage1298en_HK
dc.identifier.epage1301en_HK
dc.identifier.isiWOS:A1997WW26000005-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridChan, LC=7403540707en_HK
dc.identifier.scopusauthoridChan, YYA=36989100500en_HK
dc.identifier.scopusauthoridHa, SY=7202501115en_HK
dc.identifier.scopusauthoridYeung, CY=7201354144en_HK
dc.identifier.scopusauthoridWaye, JS=7102825935en_HK
dc.identifier.scopusauthoridChui, DHK=7005111153en_HK

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