{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:20:59Z","timestamp":1760833259141,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,10]]},"abstract":"<jats:p>In this paper, we report a pregnancy at risk for beta thalassaemia in which the fetal red blood cell volume was reduced while that of the mother was relatively great, so that the presence of a fetal red blood cell population in a mixed maternal-fetal sample was difficult to recognise. The molecular basis for these haematological phenotypes was clarified by follow up examination and alpha globin gene mapping. These indicated that the fetus was heterozygous for beta thalassaemia and had deletion of three alpha globin structural genes, while the mother, heterozygous for beta thalassaemia, also had deletion of two alpha globin structural genes. When the coinheritance of alpha thalassaemia is suspected, it is necessary to examine carefully the red blood cell distribution of a placental sample, so that the presence of a population of fetal red blood cells is not missed.<\/jats:p>","DOI":"10.1136\/jmg.23.5.456","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"456-458","source":"Crossref","is-referenced-by-count":1,"title":["Pitfalls in prenatal diagnosis of beta thalassaemia."],"prefix":"10.1136","volume":"23","author":[{"given":"C","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Maccioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1056\/NEJM198001243020401","article-title":"Polymorphism of DNA sequence in the,1-globin gene region. 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New York: National Foundation, 1982."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1056\/NEJM198305053081803","article-title":"Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle cell disease or fi-thalassemia","volume":"308","author":"Boehm, C.D.; Antonarakis, S.E.; Philips, J.A.; Stetten, G.; HH, Jr, Kazazian","year":"1983","unstructured":"Boehm CD, Antonarakis SE, Philips JA, Stetten G, Kazazian HH Jr. Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle cell disease or fi-thalassemia. N Engl J Med 1983;308:1054-8.","journal-title":"N Engl J Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1056\/NEJM198308043090506","article-title":"Prenatal diagnosis of, B-thalassemia. 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New York: Grune and Stratton, 1978: 91-104."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/j.1365-2141.1980.tb05914.x","article-title":"Prenatal diagnosis of fr.thalassaemia by fetal red cell enrichment with NH4ClNH4HCO3 differential lysis of maternal cells","volume":"44","author":"Furbetta, M.; Angius, A.; Ximenes, A.","year":"1980","unstructured":"Furbetta M, Angius A, Ximenes A, et al. Prenatal diagnosis of fr.thalassaemia by fetal red cell enrichment with NH4ClNH4HCO3 differential lysis of maternal cells. Br J Haematol 1980;44:441-50.","journal-title":"Br J Haematol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/j.1749-6632.1985.tb17208.x","article-title":"Antenatal diagnosis of thalassemia major in Sardinia","volume":"445","author":"Cao, A.; Cossu, P.; Falchi, A.M.","year":"1985","unstructured":"Cao A, Cossu P, Falchi AM, et al. Antenatal diagnosis of thalassemia major in Sardinia. 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