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Conference Paper: Occult alpha globin gene mutations are the commonest causes of red cell microcytosis unexplained by phenotypic testing

TitleOccult alpha globin gene mutations are the commonest causes of red cell microcytosis unexplained by phenotypic testing
Authors
Issue Date2014
PublisherHAA 2014.
Citation
The 2014 Annual Scientific Meetings of the HAA, Perth, Australia, 19-22 October 2014. In Abstracts Book, 2014, p. 357, abstract P140 How to Cite?
AbstractAIM: Hypochromic microcytic anaemia is the hallmark phenotype of thalassaemia. Current phenotypic tests do not provide a diagnosis in a small proportion of patients with red cell microcytosis. We investigated the genetic basis of microcytosis in a cohort of such subjects. METHOD: We identified from a large cohort of 1684 unselected requests for thalassaemia testing 25 Chinese subjects who had unexplained microcytosis after phenotypic haemoglobin studies. Extensive genotypic analysis of the α and β globin gene cluster was performed in 20 of these subjects who had adequate DNA. Techniques employed included gap-polymerase chain reaction, amplification-refractory mutation system, Sanger sequencing and multiplex ligation-dependent …
DescriptionHAA: Haematology Society of Australia and New Zealand, The Australian & New Zealand Society of Blood Transfusion and The Australasian Society of Thrombosis and Haemostasis
Persistent Identifierhttp://hdl.handle.net/10722/204402

 

DC FieldValueLanguage
dc.contributor.authorSo, JCCen_US
dc.contributor.authorLiu, AKen_US
dc.contributor.authorTsang, MHen_US
dc.contributor.authorNgai, DYen_US
dc.contributor.authorLeung, KSen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2014-09-19T23:34:11Z-
dc.date.available2014-09-19T23:34:11Z-
dc.date.issued2014en_US
dc.identifier.citationThe 2014 Annual Scientific Meetings of the HAA, Perth, Australia, 19-22 October 2014. In Abstracts Book, 2014, p. 357, abstract P140en_US
dc.identifier.urihttp://hdl.handle.net/10722/204402-
dc.descriptionHAA: Haematology Society of Australia and New Zealand, The Australian & New Zealand Society of Blood Transfusion and The Australasian Society of Thrombosis and Haemostasis-
dc.description.abstractAIM: Hypochromic microcytic anaemia is the hallmark phenotype of thalassaemia. Current phenotypic tests do not provide a diagnosis in a small proportion of patients with red cell microcytosis. We investigated the genetic basis of microcytosis in a cohort of such subjects. METHOD: We identified from a large cohort of 1684 unselected requests for thalassaemia testing 25 Chinese subjects who had unexplained microcytosis after phenotypic haemoglobin studies. Extensive genotypic analysis of the α and β globin gene cluster was performed in 20 of these subjects who had adequate DNA. Techniques employed included gap-polymerase chain reaction, amplification-refractory mutation system, Sanger sequencing and multiplex ligation-dependent …-
dc.languageengen_US
dc.publisherHAA 2014.-
dc.relation.ispartofHAA 2014 Annual Scientific Meetingen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleOccult alpha globin gene mutations are the commonest causes of red cell microcytosis unexplained by phenotypic testingen_US
dc.typeConference_Paperen_US
dc.identifier.emailSo, JCC: scc@pathology.hku.hken_US
dc.identifier.emailChan, AYW: a1ywchan@hku.hk-
dc.identifier.authoritySo, JCC=rp00391en_US
dc.description.naturepostprint-
dc.identifier.hkuros237591en_US
dc.identifier.spage357, abstract P140-
dc.identifier.epage357, abstract P140-
dc.publisher.placeAustralia-

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