{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T02:28:43Z","timestamp":1764988123560,"version":"3.46.0"},"reference-count":19,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:p>\n                    <jats:bold>Aims:<\/jats:bold>\n                    To characterise a novel 11.1 kb deletion that eliminated both of the duplicated \u03b1 globin genes, giving rise to a typical \u03b1\n                    <jats:sup>0<\/jats:sup>\n                    thalassaemia phenotype in four carriers from a Chinese family.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    Haematological investigations were carried out on all family members. The seven common forms of \u03b1 thalassaemia were screened for by the polymerase chain reaction (PCR) and Southern blotting was used to analyse the \u03b1 globin gene cluster. DNA sequence analysis of the entire \u03b11 and \u03b11 globin gene region was carried out and reverse transcription (RT)-PCR was used to investigate the transcription levels of the \u03b1 and \u03b2 globin genes.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    The breakpoints were found to lie between coordinates 31695\u201331724 and 42846\u201342867 of the \u03b1 globin gene cluster (NG_000006), with a total of about 11 135 nucleotides deleted. These sequences are involved in (CA)\n                    <jats:sub>n<\/jats:sub>\n                    repeats, suggesting a homologous recombination event. RT-PCR analysis gave a transcription level of the \u03b1 globin gene in heterozygotes comparable with that of SEA deletion heterozygotes, confirming no output of \u03b1 globin from the linked pair of \u03b1 globin genes. The heterozygosity for this novel deletion was confirmed by PCR diagnosis in all four carriers from this family.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    This rare mutation constitutes an additional heterogeneous defect causing \u03b1 thalassaemia in the Chinese population.\n                  <\/jats:p>","DOI":"10.1136\/jcp.2003.12856","type":"journal-article","created":{"date-parts":[[2004,1,27]],"date-time":"2004-01-27T13:23:31Z","timestamp":1075209811000},"page":"164-167","source":"Crossref","is-referenced-by-count":13,"title":["\u03b1\n                    <sup>0<\/sup>\n                    Thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated \u03b1 globin genes"],"prefix":"10.1136","volume":"57","author":[{"given":"S-Q","family":"Jia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q-H","family":"Mo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L-Y","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X-M","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2004,1,27]]},"reference":[{"key":"2025120518065699000_57.2.164.1","unstructured":"Higgs DR, Thein SL, Wood WG. The biology of the thalassemias. In: Weatherall DJ, Clegg JB, eds. The thalassemia syndromes, 4th ed. Massachusetts: Blackwell Science, 2001:65\u00e2\u0080\u0093237."},{"key":"2025120518065699000_57.2.164.2","doi-asserted-by":"crossref","first-page":"305vi","DOI":"10.1016\/S0889-8545(01)00006-7","volume":"29","year":"2002","journal-title":"Obstet Gynecol Clin North Am"},{"key":"2025120518065699000_57.2.164.3","first-page":"5","volume":"97","year":"1998","journal-title":"J Formos Med Assoc"},{"key":"2025120518065699000_57.2.164.4","first-page":"304","volume":"1","year":"1985","journal-title":"Lancet"},{"key":"2025120518065699000_57.2.164.5","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1365-2141.1994.tb04738.x","volume":"86","year":"1994","journal-title":"Br J Haematol"},{"key":"2025120518065699000_57.2.164.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705013361805"},{"key":"2025120518065699000_57.2.164.7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216149"},{"key":"2025120518065699000_57.2.164.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830380321"},{"key":"2025120518065699000_57.2.164.9","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/j.1365-2141.1992.tb08148.x","volume":"80","year":"1992","journal-title":"Br J Haematol"},{"key":"2025120518065699000_57.2.164.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200008243430804"},{"key":"2025120518065699000_57.2.164.11","first-page":"192","volume":"21","year":"2000","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"2025120518065699000_57.2.164.12","first-page":"216","volume":"18","year":"2001","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"2025120518065699000_57.2.164.13","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.01870.x"},{"key":"2025120518065699000_57.2.164.14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01221.x"},{"key":"2025120518065699000_57.2.164.15","first-page":"293","volume":"85","year":"1990","journal-title":"Hum Genet"},{"key":"2025120518065699000_57.2.164.16","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1365-2141.1994.tb04882.x","volume":"87","year":"1994","journal-title":"Br J Haematol"},{"key":"2025120518065699000_57.2.164.17","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1360\/csb1994-39-12-1059","volume":"39","year":"1994","journal-title":"Chin Sci Bull"},{"key":"2025120518065699000_57.2.164.18","first-page":"109","volume":"44","year":"1990","journal-title":"Eur J Haematol"},{"key":"2025120518065699000_57.2.164.19","doi-asserted-by":"publisher","DOI":"10.3109\/03630269409014143"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.2003.12856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T02:07:04Z","timestamp":1764986824000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.2003.12856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1,27]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2004,1,27]]},"published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1136\/jcp.2003.12856"],"URL":"https:\/\/doi.org\/10.1136\/jcp.2003.12856","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2004,1,27]]}}}