{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:10:27Z","timestamp":1698297027393},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":4070,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case in which a Greek couple was considered not to be at risk of having children with homozygous \u03b2\u2010thalassaemia, an assessment based largely on the father's belief that he carried \u03b1\u2010thalassaemia. After their first child was diagnosed with homozygous \u03b2\u2010thalassaemia, the case was re\u2010assessed and both parents were shown to have the haematological profile of \u03b2\u2010thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS\u20101 nt 110 G\u2192A \u03b2<jats:sup>+<\/jats:sup> \u2010thalassaemia mutation. Direct nucleotide sequencing of PCR\u2010amplified DNA revealed that the father carries a novel \u03b2<jats:sup>0<\/jats:sup>\u2010thalassaemia mutation, frameshift codons 9\/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel \u03b2\u2010thalassaemia mutations.<\/jats:p>","DOI":"10.1002\/pd.1970141006","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:51:35Z","timestamp":1172991095000},"page":"929-932","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a novel \u03b2<sup>0<\/sup> \u2010 thalassaemia mutation in a greek family and subsequent prenatal diagnosis"],"prefix":"10.1002","volume":"14","author":[{"given":"John S.","family":"Waye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry","family":"Eng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy F.","family":"Olivieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H. K.","family":"Chui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"63","article-title":"Community control of hereditary anemias: memorandum from a WHO meeting","volume":"61","author":"Boya A.","year":"1983","journal-title":"Bull. WHO"},{"key":"e_1_2_1_3_1","first-page":"181","article-title":"Modifications to improve the effectiveness of restriction fragment length polymorphism typing","volume":"1","author":"Budowle B.","year":"1990","journal-title":"Appl. Theor. 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