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Article: β-Thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (-CTTT) β0-thalassemia mutation

Titleβ-Thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (-CTTT) β0-thalassemia mutation
Authors
Issue Date2000
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, 2000, v. 64 n. 3, p. 206-209 How to Cite?
AbstractWe report a case of β-thalassemia intermedia caused by compound heterozygosity for hemoglobin (Hb) Malay and codon 41/42 (-CTTT) β0- thalassemia mutation in a 38-year-old Chinese woman. This patient has long- standing anemia with a baseline Hb level of around 70 g/L. She worked as a full-time cashier and had not required regular blood transfusions. Nevertheless, she had splenomegaly necessitating splenectomy, cholelithiasis, and iron overload. This case illustrates the varied phenotypic expression associated with compound heterozygosity for Hb Malay and other β-thalassemia mutations. Since Hb Malay migrates as Hb A on electrophoresis and chromatography, this variant Hb mutation ought to be included in the differential diagnosis for β-thalassemia major or intermedia patients of Southeast Asian descent who are reported to have Hb A on the basis of Hb analysis. The possible presence of this mutation should also be considered in appropriate cases for genetic counseling in couples at risk of conceiving fetuses with β-thalassemia major or intermedia. (C) 2000 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148199
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMa, SKen_US
dc.contributor.authorChow, EYDen_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorKung, NNSen_US
dc.contributor.authorWaye, JSen_US
dc.contributor.authorChan, LCen_US
dc.contributor.authorChui, DHKen_US
dc.date.accessioned2012-05-29T06:11:27Z-
dc.date.available2012-05-29T06:11:27Z-
dc.date.issued2000en_US
dc.identifier.citationAmerican Journal Of Hematology, 2000, v. 64 n. 3, p. 206-209en_US
dc.identifier.issn0361-8609en_US
dc.identifier.urihttp://hdl.handle.net/10722/148199-
dc.description.abstractWe report a case of β-thalassemia intermedia caused by compound heterozygosity for hemoglobin (Hb) Malay and codon 41/42 (-CTTT) β0- thalassemia mutation in a 38-year-old Chinese woman. This patient has long- standing anemia with a baseline Hb level of around 70 g/L. She worked as a full-time cashier and had not required regular blood transfusions. Nevertheless, she had splenomegaly necessitating splenectomy, cholelithiasis, and iron overload. This case illustrates the varied phenotypic expression associated with compound heterozygosity for Hb Malay and other β-thalassemia mutations. Since Hb Malay migrates as Hb A on electrophoresis and chromatography, this variant Hb mutation ought to be included in the differential diagnosis for β-thalassemia major or intermedia patients of Southeast Asian descent who are reported to have Hb A on the basis of Hb analysis. The possible presence of this mutation should also be considered in appropriate cases for genetic counseling in couples at risk of conceiving fetuses with β-thalassemia major or intermedia. (C) 2000 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.subject.meshAdulten_US
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlobins - Geneticsen_US
dc.subject.meshHemoglobins, Abnormal - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshThalassemia - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Geneticsen_US
dc.titleβ-Thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (-CTTT) β0-thalassemia mutationen_US
dc.typeArticleen_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/1096-8652(200007)64:3<206::AID-AJH12>3.0.CO;2-#en_US
dc.identifier.pmid10861818-
dc.identifier.scopuseid_2-s2.0-0034046136en_US
dc.identifier.hkuros56464-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034046136&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume64en_US
dc.identifier.issue3en_US
dc.identifier.spage206en_US
dc.identifier.epage209en_US
dc.identifier.isiWOS:000087670600012-
dc.publisher.placeUnited Statesen_US

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