Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype

Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporat...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1981-12, Vol.18 (6), p.476-478
Main Authors: Furbetta, M, Angius, A, Falchi, A M, Tuveri, T, Tannoia, Pertosa, A P, Cao, A
Format: Article
Language:English
Subjects:
Female
Fetal Blood - metabolism
Genetic Counseling
Globins - metabolism
Humans
Pregnancy
Prenatal Diagnosis
Thalassemia - diagnosis
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites cdi_FETCH-LOGICAL-b3496-296f5876eefe6c0f971bbb1581b061b42df758b2993e5a58ef016c86723ef5df3
container_end_page 478
container_issue 6
container_start_page 476
container_title Journal of medical genetics
container_volume 18
creator Furbetta, M
Angius, A
Falchi, A M
Tuveri, T
Tannoia
Pertosa, A P
Cao, A
description Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.
doi_str_mv 10.1136/jmg.18.6.476
format article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1048800</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73868844</sourcerecordid><originalsourceid>FETCH-LOGICAL-b3496-296f5876eefe6c0f971bbb1581b061b42df758b2993e5a58ef016c86723ef5df3</originalsourceid><addsrcrecordid>eNp9kU2L1EAQhhtR1tnVm1chIOjFzHalP3MRZND9YNA96Ap7aboz1dnEJD12J4v77zcyw-B68FSH5-GtKl5CXgFdAjB52vb1EvRSLrmST8gCuNS5LDh_ShaUFkVeiJI9J8cptZQCUyCPyJFijAuABbm5ijjY0XbZprH1EFKTsuCz8dZ2NiWLfWOz3rYhZhHT1I3NUGc-hj5b4zZEPM0cjjZ_pNc4hPF-iy_IM2-7hC_384R8__zp2-o8X389u1h9XOeO8VLmRSm90EoiepQV9aUC5xwIDY5KcLzYeCW0K8qSobBCo6cgKy1VwdCLjWcn5MMudzu5HjcVDmO0ndnGprfx3gTbmMdkaG5NHe4MUK41pXPA231ADL8mTKPpm1Rh19kBw5SMYlpqzfksvvlHbMMUh_k5A0pRIamSMFvvd1YVQ0oR_eEUoOZPY2ZuzIA20syNzfrrv88_yPuKZp7veJNG_H3ANv40UjElzJfrlRGXP27Wl-zaXM3-u53v-vb_mx8AAmavFA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1770560761</pqid></control><display><type>article</type><title>Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype</title><source>PubMed (Medline)</source><creator>Furbetta, M ; Angius, A ; Falchi, A M ; Tuveri, T ; Tannoia ; Pertosa, A P ; Cao, A</creator><creatorcontrib>Furbetta, M ; Angius, A ; Falchi, A M ; Tuveri, T ; Tannoia ; Pertosa, A P ; Cao, A</creatorcontrib><description>Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.18.6.476</identifier><identifier>PMID: 7334511</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Female ; Fetal Blood - metabolism ; Genetic Counseling ; Globins - metabolism ; Humans ; Pregnancy ; Prenatal Diagnosis ; Thalassemia - diagnosis</subject><ispartof>Journal of medical genetics, 1981-12, Vol.18 (6), p.476-478</ispartof><rights>Copyright BMJ Publishing Group LTD Dec 1981</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-b3496-296f5876eefe6c0f971bbb1581b061b42df758b2993e5a58ef016c86723ef5df3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048800/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048800/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7334511$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Furbetta, M</creatorcontrib><creatorcontrib>Angius, A</creatorcontrib><creatorcontrib>Falchi, A M</creatorcontrib><creatorcontrib>Tuveri, T</creatorcontrib><creatorcontrib>Tannoia</creatorcontrib><creatorcontrib>Pertosa, A P</creatorcontrib><creatorcontrib>Cao, A</creatorcontrib><title>Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.</description><subject>Female</subject><subject>Fetal Blood - metabolism</subject><subject>Genetic Counseling</subject><subject>Globins - metabolism</subject><subject>Humans</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Thalassemia - diagnosis</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><recordid>eNp9kU2L1EAQhhtR1tnVm1chIOjFzHalP3MRZND9YNA96Ap7aboz1dnEJD12J4v77zcyw-B68FSH5-GtKl5CXgFdAjB52vb1EvRSLrmST8gCuNS5LDh_ShaUFkVeiJI9J8cptZQCUyCPyJFijAuABbm5ijjY0XbZprH1EFKTsuCz8dZ2NiWLfWOz3rYhZhHT1I3NUGc-hj5b4zZEPM0cjjZ_pNc4hPF-iy_IM2-7hC_384R8__zp2-o8X389u1h9XOeO8VLmRSm90EoiepQV9aUC5xwIDY5KcLzYeCW0K8qSobBCo6cgKy1VwdCLjWcn5MMudzu5HjcVDmO0ndnGprfx3gTbmMdkaG5NHe4MUK41pXPA231ADL8mTKPpm1Rh19kBw5SMYlpqzfksvvlHbMMUh_k5A0pRIamSMFvvd1YVQ0oR_eEUoOZPY2ZuzIA20syNzfrrv88_yPuKZp7veJNG_H3ANv40UjElzJfrlRGXP27Wl-zaXM3-u53v-vb_mx8AAmavFA</recordid><startdate>19811201</startdate><enddate>19811201</enddate><creator>Furbetta, M</creator><creator>Angius, A</creator><creator>Falchi, A M</creator><creator>Tuveri, T</creator><creator>Tannoia</creator><creator>Pertosa, A P</creator><creator>Cao, A</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19811201</creationdate><title>Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype</title><author>Furbetta, M ; Angius, A ; Falchi, A M ; Tuveri, T ; Tannoia ; Pertosa, A P ; Cao, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b3496-296f5876eefe6c0f971bbb1581b061b42df758b2993e5a58ef016c86723ef5df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Female</topic><topic>Fetal Blood - metabolism</topic><topic>Genetic Counseling</topic><topic>Globins - metabolism</topic><topic>Humans</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Thalassemia - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Furbetta, M</creatorcontrib><creatorcontrib>Angius, A</creatorcontrib><creatorcontrib>Falchi, A M</creatorcontrib><creatorcontrib>Tuveri, T</creatorcontrib><creatorcontrib>Tannoia</creatorcontrib><creatorcontrib>Pertosa, A P</creatorcontrib><creatorcontrib>Cao, A</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Furbetta, M</au><au>Angius, A</au><au>Falchi, A M</au><au>Tuveri, T</au><au>Tannoia</au><au>Pertosa, A P</au><au>Cao, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1981-12-01</date><risdate>1981</risdate><volume>18</volume><issue>6</issue><spage>476</spage><epage>478</epage><pages>476-478</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7334511</pmid><doi>10.1136/jmg.18.6.476</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 0022-2593
ispartof Journal of medical genetics, 1981-12, Vol.18 (6), p.476-478
issn 0022-2593
1468-6244
1468-6244
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1048800
source PubMed (Medline)
subjects Female
Fetal Blood - metabolism
Genetic Counseling
Globins - metabolism
Humans
Pregnancy
Prenatal Diagnosis
Thalassemia - diagnosis
title Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T00%3A51%3A55IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Prenatal%20diagnosis%20of%20thalassaemia%20major%20resulting%20from%20Lepore/%20beta-thalassaemia%20genotype&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Furbetta,%20M&rft.date=1981-12-01&rft.volume=18&rft.issue=6&rft.spage=476&rft.epage=478&rft.pages=476-478&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.18.6.476&rft_dat=%3Cproquest_pubme%3E73868844%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-b3496-296f5876eefe6c0f971bbb1581b061b42df758b2993e5a58ef016c86723ef5df3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1770560761&rft_id=info:pmid/7334511&rfr_iscdi=true