{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T09:56:37Z","timestamp":1700646997429},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2001,5,11]],"date-time":"2001-05-11T00:00:00Z","timestamp":989539200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In Cyprus all couples carrying \u03b1<jats:sup>0<\/jats:sup>\u2010thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is offered to all of them. Prenatal diagnosis for \u03b1\u2010thalassaemia is routinely done by two independent molecular methods. With the first method, the mutations of the parents are directly determined by gap\u2010PCR and then the chorionic villus sample (CVS) is examined for the presence of these mutations. With the other method, a (CA)<jats:sub>n<\/jats:sub> repeat polymorphic site located between the \u03c8\u03b1<jats:sub>1<\/jats:sub>\u2010 and \u03b1<jats:sub>2<\/jats:sub>\u2010globin genes is used for determining the presence or absence of the normal and mutant alleles. In the period from 1995 to 1999, molecular analysis of 46 couples in which haematological data were consistent with deletion of two \u03b1\u2010globin genes in both partners indicated that only 13 of them were actually at risk for haemoglobin (Hb) Bart's hydrops fetalis and prenatal diagnosis was provided in 16 pregnancies. The molecular diagnosis was possible in all cases with the use of both gap\u2010PCR and (CA)<jats:sub>n<\/jats:sub> repeat polymorphisms analysis. No misdiagnosed cases for \u03b1\u2010thalassaemia have been reported to date. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.73","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:08:54Z","timestamp":1030313334000},"page":"413-417","source":"Crossref","is-referenced-by-count":6,"title":["Alpha\u2010thalassaemia prenatal diagnosis by two PCR\u2010based methods"],"prefix":"10.1002","volume":"21","author":[{"given":"M.","family":"Kleanthous","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kyriacou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kyrri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kalogerou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PH.","family":"Vassiliades","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Drousiotou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Kallikas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ioannou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Angastiniotis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,5,11]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"417","article-title":"The Cyprus thalassaemia control program","volume":"23","author":"Angastiniotis M","year":"1988","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830460309"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb08354.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1992.tb08180.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.d01-2017.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1182\/blood.V91.7.2213","article-title":"Hydrops fetalis caused by \u03b1\u2010thalassaemia: an emerging health problem","volume":"91","author":"Chui DHK","year":"1998","journal-title":"Blood"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5456.278"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.5.1165"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03590.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000205553"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/306398a0"},{"key":"e_1_2_1_13_1","unstructured":"HuismanTHJ CarverMFH BaysalE.1997.A Syllabus of Thalassaemia Mutations. The Sickle Cell Anemia Foundation Augusta GA USA."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.281.6235.268"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199706)17:6<505::AID-PD104>3.0.CO;2-R"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630260008997525"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1182\/blood.V20.5.581.581","article-title":"Alpha\u2010chain thalassaemia and hydrops fetalis in Malaya: report of five cases","volume":"20","author":"Lie\u2010Injo LE","year":"1962","journal-title":"Blood"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5213.1649"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.7.2503"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1182\/blood.V65.6.1434.bloodjournal6561434","article-title":"\u03b10\u2010Thalassaemia due to recombination between the \u03b11\u2010globin gene and an AluI repeat","volume":"65","author":"Nichols RD","year":"1985","journal-title":"Blood"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92338-I"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.8.5041"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3586"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1979.tb104208.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1981.tb02770.x"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199706)17:6<505::AID-PD104>3.0.CO;2-R"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.73","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.73","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:20:46Z","timestamp":1696616446000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.73"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,5]]}},"alternative-id":["10.1002\/pd.73"],"URL":"https:\/\/doi.org\/10.1002\/pd.73","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5]]}}}