The importance of systematic haemoglobin screening in subjects at high risk of haemoglobinopathy
It is not wise to wait until fetal death is discovered to investigate haemoglobin abnormalities in high-risk parents. Systematic screening of such couples before conception would make it possible to provide relevant genetic advice. In a recent case, the discovery of a hydrops fetalis after 21 weeks...
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| Veröffentlicht in: | Prenatal diagnosis 1990-04, Vol.10 (4), p.276-277 |
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| container_title | Prenatal diagnosis |
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| creator | LEGRAS, B LUCAS-CLERC, C RUELLAND, A DOUALIN, G CLOAREC, L |
| description | It is not wise to wait until fetal death is discovered to investigate haemoglobin abnormalities in high-risk parents. Systematic screening of such couples before conception would make it possible to provide relevant genetic advice. In a recent case, the discovery of a hydrops fetalis after 21 weeks of amenorrhoea led us to conduct a fetal karyotype study. Fetal blood was collected. A Kleihauer test and haemoglobin electrophoresis were performed to ensure that there was no maternal blood contamination. Haemoglobin electrophoresis unexpectedly revealed total absence of HbF ( alpha sub(2) gamma sub(2)) and HbA ( alpha sub(2) beta sub(2)), a high proportion (77 percent) of Hb Bart's ( gamma sub(4)), and some Hb Portland ( zeta sub(2) gamma sub(2)) (15 percent) and HbH ( beta sub(4)) (8 percent). |
| format | Article |
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Systematic screening of such couples before conception would make it possible to provide relevant genetic advice. In a recent case, the discovery of a hydrops fetalis after 21 weeks of amenorrhoea led us to conduct a fetal karyotype study. Fetal blood was collected. A Kleihauer test and haemoglobin electrophoresis were performed to ensure that there was no maternal blood contamination. Haemoglobin electrophoresis unexpectedly revealed total absence of HbF ( alpha sub(2) gamma sub(2)) and HbA ( alpha sub(2) beta sub(2)), a high proportion (77 percent) of Hb Bart's ( gamma sub(4)), and some Hb Portland ( zeta sub(2) gamma sub(2)) (15 percent) and HbH ( beta sub(4)) (8 percent).</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>PMID: 2367345</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester: Wiley</publisher><subject>Biological and medical sciences ; Electrophoresis ; Female ; genetic screening ; Genetic Testing ; Gynecology. Andrology. Obstetrics ; Hemoglobinopathies - diagnosis ; hemoglobinopathy ; Humans ; Management. Prenatal diagnosis ; Medical sciences ; Pregnancy ; Pregnancy. Fetus. Placenta</subject><ispartof>Prenatal diagnosis, 1990-04, Vol.10 (4), p.276-277</ispartof><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19399970$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2367345$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LEGRAS, B</creatorcontrib><creatorcontrib>LUCAS-CLERC, C</creatorcontrib><creatorcontrib>RUELLAND, A</creatorcontrib><creatorcontrib>DOUALIN, G</creatorcontrib><creatorcontrib>CLOAREC, L</creatorcontrib><title>The importance of systematic haemoglobin screening in subjects at high risk of haemoglobinopathy</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>It is not wise to wait until fetal death is discovered to investigate haemoglobin abnormalities in high-risk parents. Systematic screening of such couples before conception would make it possible to provide relevant genetic advice. In a recent case, the discovery of a hydrops fetalis after 21 weeks of amenorrhoea led us to conduct a fetal karyotype study. Fetal blood was collected. A Kleihauer test and haemoglobin electrophoresis were performed to ensure that there was no maternal blood contamination. Haemoglobin electrophoresis unexpectedly revealed total absence of HbF ( alpha sub(2) gamma sub(2)) and HbA ( alpha sub(2) beta sub(2)), a high proportion (77 percent) of Hb Bart's ( gamma sub(4)), and some Hb Portland ( zeta sub(2) gamma sub(2)) (15 percent) and HbH ( beta sub(4)) (8 percent).</description><subject>Biological and medical sciences</subject><subject>Electrophoresis</subject><subject>Female</subject><subject>genetic screening</subject><subject>Genetic Testing</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Hemoglobinopathies - diagnosis</subject><subject>hemoglobinopathy</subject><subject>Humans</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. 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Andrology. Obstetrics</topic><topic>Hemoglobinopathies - diagnosis</topic><topic>hemoglobinopathy</topic><topic>Humans</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LEGRAS, B</creatorcontrib><creatorcontrib>LUCAS-CLERC, C</creatorcontrib><creatorcontrib>RUELLAND, A</creatorcontrib><creatorcontrib>DOUALIN, G</creatorcontrib><creatorcontrib>CLOAREC, L</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LEGRAS, B</au><au>LUCAS-CLERC, C</au><au>RUELLAND, A</au><au>DOUALIN, G</au><au>CLOAREC, L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The importance of systematic haemoglobin screening in subjects at high risk of haemoglobinopathy</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>1990-04</date><risdate>1990</risdate><volume>10</volume><issue>4</issue><spage>276</spage><epage>277</epage><pages>276-277</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>It is not wise to wait until fetal death is discovered to investigate haemoglobin abnormalities in high-risk parents. Systematic screening of such couples before conception would make it possible to provide relevant genetic advice. In a recent case, the discovery of a hydrops fetalis after 21 weeks of amenorrhoea led us to conduct a fetal karyotype study. Fetal blood was collected. A Kleihauer test and haemoglobin electrophoresis were performed to ensure that there was no maternal blood contamination. Haemoglobin electrophoresis unexpectedly revealed total absence of HbF ( alpha sub(2) gamma sub(2)) and HbA ( alpha sub(2) beta sub(2)), a high proportion (77 percent) of Hb Bart's ( gamma sub(4)), and some Hb Portland ( zeta sub(2) gamma sub(2)) (15 percent) and HbH ( beta sub(4)) (8 percent).</abstract><cop>Chichester</cop><pub>Wiley</pub><pmid>2367345</pmid><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 1990-04, Vol.10 (4), p.276-277 |
| issn | 0197-3851 1097-0223 |
| language | eng |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Biological and medical sciences Electrophoresis Female genetic screening Genetic Testing Gynecology. Andrology. Obstetrics Hemoglobinopathies - diagnosis hemoglobinopathy Humans Management. Prenatal diagnosis Medical sciences Pregnancy Pregnancy. Fetus. Placenta |
| title | The importance of systematic haemoglobin screening in subjects at high risk of haemoglobinopathy |
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